The following Conditions are related to

Select a specific condition below to view its details.

  • Achalasia

    Achalasia is a rare disease of the muscle of the esophagus (swallowing tube). The term achalasia means "failure to relax" and refers to the inability of the lower esophageal sphincter (a ring of muscle situated between the lower esophagus and the stomach) to open and let food pass into the stomach. As a result, patients with achalasia have difficulty in swallowing food. How does the normal esophagus function? The esophagus has  Read More

  • Acid maltase deficiency

    Pompe disease is a rare multisystem genetic disorder that is characterized by absence or deficiency of the lysosomal enzyme alpha-glucosidase (GAA). This enzyme is required to breakdown (metabolize) the complex carbohydrate glycogen and convert it into the simple sugar glucose. Glycogen is a thick, sticky substance and failure to properly break it down results in massive accumulation of lysosomal glycogen in cells, particularly in cardiac, smo  Read More

  • Acidemia, isovaleric

    A rare genetic condition where the body can't process proteins adequately. More specifically, there are insufficient levels of the enzyme needed to break down an amino acid called leucine. This results in a build up of isovaleric acid which can harm the brain and nervous system. Some people suffer severe symptoms from birth and others suffer milder symptoms that come and go and are affected by such things as infections or consumption of high prot  Read More

  • Alkaptonuria

    Alkaptonuria is an inherited condition that causes urine to turn black when exposed to air. Ochronosis, a buildup of dark pigment in connective tissues such as cartilage and skin, is also characteristic of the disorder. This blue-black pigmentation usually appears after age 30. People with alkaptonuria typically develop arthritis, particularly in the spine and large joints, beginning in early adulthood. Other features of this condition can inc  Read More

  • Alkaptonuric ochronosis

    Alkaptonuria is a rare genetic metabolic disorder characterized by the accumulation of homogentisic acid in the body. Affected individuals lack enough functional levels of an enzyme required to breakdown homogentisic acid. Affected individuals may have dark urine or urine that turns black when exposed to air. However, this change may not occur for several hours after urination and often goes unnoticed. Aside from dark urine that is present fro  Read More

  • Anorexia nervosa

    Anorexia nervosa facts Anorexia nervosa is a a psychiatric condition, which is part of a group of eating disorders. The cause of anorexia has not been definitively established, but self-esteem and body-image issues, societal pressures, and genetic factors likely each play a role. Anorexia affects females far more often than males and is most common in adolescent females. Anorexia tends to affect the  Read More

  • Apple peel syndrome

    Jejunal Atresia is a rare genetic disorder. Patients with this disorder are born with a partial absence of the fold of the stomach membrane that connects the small intestine to the back wall of the abdomen. As a result, one of the three portions of the small intestine (the jejunal) twists around one of the arteries of the colon called the marginal artery and causes a blockage (atresia). Symptoms in individuals with this disorder include vomiti  Read More

  • Arginase deficiency

    Arginase deficiency is a rare inherited disorder characterized by complete or partial lack of the enzyme arginase. Arginase is one of six enzymes that play a role in the breakdown and removal of nitrogen from the body, a process known as the urea cycle. The lack of the arginase enzyme results in excessive accumulation of nitrogen, in the form of ammonia (hyperammonemia), in the blood and arginine (hyperarginemia) in the blood and cerebrospinal  Read More

  • Argininemia

    Arginase deficiency is a rare inherited disorder characterized by complete or partial lack of the enzyme arginase. Arginase is one of six enzymes that play a role in the breakdown and removal of nitrogen from the body, a process known as the urea cycle. The lack of the arginase enzyme results in excessive accumulation of nitrogen, in the form of ammonia (hyperammonemia), in the blood and arginine (hyperarginemia) in the blood and cerebrospinal  Read More

  • Argininosuccinate lyase deficiency

    Argininosuccinic aciduria is a rare inherited disorder characterized by deficiency or lack of the enzyme argininosuccinate lyase (ASL). Argininosuccinate lyase is one of six enzymes that play a role in the breakdown and removal of nitrogen from the body, a process known as the urea cycle. The lack of this enzyme results in excessive accumulation of nitrogen, in the form of ammonia (hyperammonemia), in the blood. Affected infants may experience  Read More

  • Argininosuccinic aciduria

    Argininosuccinic aciduria is a rare inherited disorder characterized by deficiency or lack of the enzyme argininosuccinate lyase (ASL). Argininosuccinate lyase is one of six enzymes that play a role in the breakdown and removal of nitrogen from the body, a process known as the urea cycle. The lack of this enzyme results in excessive accumulation of nitrogen, in the form of ammonia (hyperammonemia), in the blood. Affected infants may experience  Read More

  • Arsenic poisoning

    What is arsenic? Arsenic is a grey-appearing chemical element (atomic number 33, symbol As in the periodic table) also termed a metalloid. Arsenic can exist in a metallic state in three forms (yellow, black, and gray; with gray predominating) and in ionic forms. Arsenic is considered to be a heavy metal, and arsenic toxicity shares some features with poisonings by other heavy metals. Historically, arsenic has been used as a medicinal a  Read More

  • Ascites

    Ascites is the accumulation of fluid (usually serous fluid which is a pale yellow and clear fluid) in the abdominal (peritoneal) cavity. The abdominal cavity is located below the chest cavity, separated from it by the diaphragm. Ascitic fluid can have many sources such as liver disease, cancers, congestive heart failure, or kidney failure.  Read More

  • Balantidiasis

    Balantidiasis is a rare intestinal infection caused by the bacterium, Balantidium coli, a single celled parasite (ciliate protozoan) that frequently infects pigs but on occasion (rarely) infects humans. Some infected people may have no symptoms or only mild diarrhea and abdominal discomfort but others may experience more severe symptoms reminiscent of an acute inflammation of the intestines. Symptoms of Balantidiasis may be similar to those of  Read More

  • Barium enema

    A lower GI series, also known as a barium enema, barium enema procedure, barium enema X-ray or double-contrast barium enema, is an X-ray test in which a white liquid, called barium, is infused through a catheter (tube) inserted through the anus and into the rectum until it fills the large bowel (colon). X-ray films of the colon then are taken so that the outline of the colon can be seen. The barium enema and double contrast barium enema are us  Read More

  • Bilious attacks

    Cyclic vomiting syndrome (CVS) is a rare disorder characterized by recurrent, similar episodes of severe nausea and vomiting. An episode may last for a few hours to several days and then is followed by a period of time during which affected individuals are free of severe nausea and vomiting. This alternating pattern of disease and disease-free periods distinguishes cyclic vomiting syndrome from other similar disorders. Also, in cyclic vomiting  Read More

  • Bladder infection (cystitis)

    Bladder infection is an infection of the bladder. Bladder infection is also called cystitis and is a type of urinary tract infection (UTI). The urinary tract is naturally sterile and when microbes invade it, an infection may result. The bladder is a part of the urinary tract system. It serves as storage for urine before it is excreted from the body. Urine is produced by the kidney and it travels through ureters (one from the right kidn  Read More

  • Blue diaper syndrome

    Blue diaper syndrome is a rare, genetic metabolic disorder characterized by the incomplete intestinal breakdown of tryptophan, a dietary nutrient. Symptoms typically include digestive disturbances, fever, irritability and visual difficulties. Some children with blue diaper syndrome may also develop kidney disease. Infants with this disorder may have bluish urine-stained diapers. Blue diaper syndrome is inherited as an autosomal or X-linked rec  Read More

  • Brandt syndrome

    Acrodermatitis enteropathica (AE) is a disorder of zinc metabolism that occurs in one of two forms: an inborn (congenital) form and an acquired form. The inborn form of AE is a rare genetic disorder characterized by intestinal abnormalities that lead to the inability to absorb zinc from the intestine. The lack of zinc presents, characteristically, as: (1) skin inflammation with pimples (pustular dermatitis) occurring around the mouth and/or an  Read More

  • Buerger-gruetz syndrome

    Familial lipoprotein lipase (LPL) deficiency is a rare genetic metabolic disorder characterized by a deficiency of the enzyme lipoprotein lipase. Deficiency of this enzyme prevents affected individuals from properly digesting certain fats and results in massive accumulation of fatty droplets called chylomicrons in the circulation (chylomicronemia) and consequently also an increase of the plasma concentration of fatty substances called triglyce  Read More

  • Bulimia nervosa

    Bulimia nervosa facts Bulimia is an eating disorder that is characterized by episodes of binging and purging the food and or associated calories. Bulimia is a significant public-health problem, both because of the physical and mental health effects it can have. This illness often co-occurs with body dysmorphic disorder, depression, anxiety, and substance-abuse disorders. While there is no known specific cause  Read More

  • Campylobacteriosis

    Campylobacteriosis is an infection caused by bacteria you can get from contaminated food and water. It causes diarrhea. You might also hear it called campylobacter, campylobacter infection, or campylobacteriosis gastroenteritis.  Read More

  • Carboxylase deficiency, multiple

    Biotinidase deficiency (BTD) is a treatable, metabolic disorder that is the result of a low concentration, or complete lack, of the enzyme, biotinidase. Biotinidase deficiency is an inherited disorder in which the body is not able to properly process the vitamin, biotin, which is sometimes referred to as Vitamin H. Biotin is an essential vitamin to the metabolic process and biotinidase, among its other functions, allows biotin to become availa  Read More

  • Celiac disease

    Celiac disease, sometimes called celiac sprue or gluten-sensitive enteropathy, is an immune reaction to eating gluten, a protein found in wheat, barley and rye.  Read More

  • Colitis

    Colitis means inflammation of the colon. The colon, also known as the large intestine or large bowel, constitutes the last part of the digestive tract. The colon is a long, muscular tube that receives digested food from the small intestine. It removes water from the undigested food, stores the undigested food, and then eliminates it from the body through bowel movements. The rectum is the last part of the colon adjacent to the anus. Th  Read More

  • Colitis gravis

    Ulcerative colitis is an inflammatory bowel disease (IBD) of unknown cause. It is characterized by chronic inflammation and ulceration of the lining of the major portion of the large intestine (colon). In most affected individuals, the lowest region of the large intestine, known as the rectum, is initially affected. As the disease progresses, some or all, of the colon may become involved. Although associated symptoms and findings usually becom  Read More

  • Colitis, collagenous

    Collagenous colitis is a rare digestive disorder that primarily affects females and typically becomes apparent during middle age. The disorder is characterized by inflammatory changes of the mucous membranes (mucosa) of the colon (colitis) and abnormal accumulation (excessive deposition) of the protein collagen beneath the surface (epithelial) layer of the mucosa (thickened subepithelial collagenous bands). The colon is the major portion of th  Read More

  • Cps deficiency

    Carbamoyl phosphate synthetase I deficiency (CPSID) is a rare inherited disorder characterized by complete or partial lack of the carbamoyl phosphate synthetase (CPS) enzyme. This is one of five enzymes that play a role in the breakdown and removal of nitrogen from the body, a process known as the urea cycle. The lack of the CPSI enzyme results in excessive accumulation of nitrogen, in the form of ammonia (hyperammonemia), in the blood. Affect  Read More

  • Crohn's disease

    Crohn's disease facts Crohn's disease is a chronic inflammatory disease of the intestines. The cause of Crohn's disease is unknown. Crohn's disease can cause ulcers in the small intestine, colon, or both. Abdominal pain, diarrhea, vomiting, fever, and weight loss are symptoms of Crohn's disease. Crohn's disease of the small intestine may cause obstruction of the intestine. Crohn'  Read More

  • Cronkhite-canada syndrome

    Cronkhite-Canada syndrome (CCS) is a very rare disease with symptoms that include loss of taste, intestinal polyps, hair loss, and nail growth problems. It is difficult to treat because of malabsorption that accompanies the polyps. CCS occurs primarily in older people (the average age is 59) and it is not believed to have a genetic component. There have been fewer than 400 cases reported in the past 50 years, primarily in Japan but also in the  Read More

  • Cryptophthalmos-syndactyly syndrome

    Fraser syndrome is a rare genetic disorder characterized by partial webbing of the fingers and/or toes (partial syndactyly), kidney (renal) abnormalities, genital malformations, and/or, in some cases, complete fusion of the eyelids (cryptophthalmos) that may be associated with malformation of the eyes, causing blindness. In infants with Fraser syndrome, renal malformations may include improper development (dysplasia), underdevelopment (hypopla  Read More

  • Cryptosporidiosis

    Cryptosporidiosis is a diarrheal disease caused by microscopic parasites, Cryptosporidium, that can live in the intestine of humans and animals and is passed in the stool of an infected person or animal. Both the disease and the parasite are commonly known as "Crypto." The parasite is protected by an outer shell that allows it to survive outside the body for long periods of time and makes it very resistant to chlorine-based disinfectants. Duri  Read More

  • Cvid

    Common Variable Immune Deficiency (CVID) is a type of primary immunodeficiency, which is defined as an immune system dysfunction typically caused by a mutation in a gene or genes. The World Health Organization (WHO) recognizes more than 150 primary immunodeficiencies ranging from relatively common to quite rare. CVID is one of the most prevalent of primary immunodeficiencies and manifests a wide variability of symptoms and range of  Read More

  • Cyclic vomiting syndrome

      Cyclic vomiting syndrome is a disorder that causes recurrent episodes of nausea, vomiting, and tiredness (lethargy) most often in children but may occur in all age groups. Symptoms of cyclic vomiting syndrome are repeated attacks of intense nausea, vomiting, and lethargy that last anywhere from an hour to 10 days; other symptoms may include pale skin, abdominal pain, diarrhea, headache, and an increased sensitiv  Read More

  • Cyclic vomiting syndrome (cvs)

    Cyclic vomiting syndrome is characterized by episodes of severe vomiting that have no apparent cause. Episodes can last for hours or days and alternate with symptom-free periods. Episodes are similar, meaning that they tend to start at the same time of day, last the same length o  Read More

  • Cyclospora infection

    Cyclospora infection (cyclosporiasis) facts Cyclospora is a small parasitic organism that is passed to humans when they ingest food contaminated with feces from an infected person. It is most common in tropical countries, and imported foods such as lettuce have caused outbreaks in the United States. Travelers to tropical or subtropical countries are at risk, although the risk is relatively low. Diarrhea is th  Read More

  • Cysticercosis (pork tapeworm infection)

    Cysticercosis (pork tapeworm infection) facts Cysticercosis is a parasitic disease caused by ingesting the eggs of the pork tapeworm, Taenia solium. Humans are infected by ingesting raw or undercooked pork, and cysticercosis occurs after the ingestion of Taenia solium eggs. The symptoms of neurocysticercosis may include headaches, confusion, seizures, and vision changes. Cysticercosis is typically d  Read More

  • Cytochrome c oxidase deficiency

    General DiscussionCytochrome C Oxidase deficiency is a very rare inherited metabolic disorder characterized by deficiency of the enzyme cytochrome C oxidase (COX), or Complex IV, an essential enzyme that is active in the subcellular structures that help to regulate energy production (mitochondria). Deficiency of COX may be limited (localized) to the tissues of the skeletal muscles or may affect several tissues, such as the heart, kidn  Read More

  • Davidson's disease

    Microvillus inclusion disease is an extremely rare inherited intestinal disorder (enteropathy) that is typically apparent within hours or days after birth. The disorder is characterized by chronic, severe, watery diarrhea and insufficient absorption (malabsorption) of necessary nutrients due to incomplete development (hypoplasia) and/or degeneration (atrophy) of certain cells of the wall of the small intestine (e.g., hypoplastic villus atrophy  Read More

  • Dehydration

    Dehydration facts The body needs water to function. Dehydration occurs when water intake is less than water loss. Symptoms range from mild to life-threatening. The young and the elderly are especially susceptible to dehydration. What is dehydration? Water is a critical element of the body, and keeping the body adequately hydrated is a must to allow the body to function. Up to  Read More

  • Diarrhea

    Travelers' diarrhea facts Travelers' diarrhea is a gastrointestinal illness that occurs in travelers. Travelers' diarrhea usually is caused by eating food contaminated with bacteria or, less commonly, with parasites or viruses. The treatment of travelers' diarrhea is usually plenty of oral liquids as well as over-the-counter medications that control diarrhea and cramps. Antibiotic prophylaxis (preve  Read More

  • Digestive diseases: liver transplantation

    What is the liver, and what is its function. The liver is the body's largest internal organ, weighing about 3 pounds in adults. It is located below the diaphragm on the right side of the abdomen. The liver performs many complex functions in the body, including: Produces most proteins needed by the body. Metabolizes, or breaks down, nutrients from food to produce energy, when needed. Prevents s  Read More

  • Diverticulitis

    Diverticulosis and diverticulitis facts Most patients with diverticulosis (diverticular disease) have few or no symptoms. Abdominal pain, constipation, and diarrhea, can occur with diverticulosis, which then may be called diverticular disease. Diverticulosis can be diagnosed with barium X-rays, sigmoidoscopy, colonoscopy, or CT scan. Treatment of diverticulosis can include high fiber diet, and anti-  Read More

  • Dubin johnson syndrome

    Dubin Johnson Syndrome is a rare genetic liver disorder that tends to affect people of Middle Eastern Jewish heritage disproportionately to other groups. It appears to be associated with clotting factor VII in this population. Symptoms may include a yellowish color to the skin (jaundice), and a liver that is sometimes enlarged and tender.  Read More

  • Duodenal atresia

    Duodenal atresia or stenosis is a rare congenital digestive disorder that usually occurs for no apparent reason (sporadically). However, a few cases of duodenal atresia have been inherited as an autosomal recessive genetic trait. Duodenal atresia is a disease of newborn infants. Absence or complete closure (atresia) of a portion of the channel (lumen) within the first part of the small intestine (duodenum), or partial obstruction d  Read More

  • Duodenal atresia or stenosis

    Duodenal atresia or stenosis is a rare congenital digestive disorder that usually occurs for no apparent reason (sporadically). However, a few cases of duodenal atresia have been inherited as an autosomal recessive genetic trait. Duodenal atresia is a disease of newborn infants. Absence or complete closure (atresia) of a portion of the channel (lumen) within the first part of the small intestine (duodenum), or partial obstruction d  Read More

  • Duodenal stenosis

    Duodenal atresia or stenosis is a rare congenital digestive disorder that usually occurs for no apparent reason (sporadically). However, a few cases of duodenal atresia have been inherited as an autosomal recessive genetic trait. Duodenal atresia is a disease of newborn infants. Absence or complete closure (atresia) of a portion of the channel (lumen) within the first part of the small intestine (duodenum), or partial obstruction d  Read More

  • Duodenal ulcer

    Though ulcers often heal on their own, you shouldn't ignore their warning signs. If not properly treated, ulcers can lead to serious health problems, including: Bleeding Perforation (a hole through the wall of the stomach) Gastric outlet obstruction from swelling or scarring that blocks the passageway leading from the stomach to the small intestine Taking NSAIDs can lead to an ulcer without an  Read More

  • Eating disorders

    Eating disorders are serious conditions related to persistent eating behaviors that negatively impact your health, your emotions and your ability to function in important areas of life. The most common eating disorders are anorexia nervosa, bulimia nervosa and binge-eating disorder. Most eating disorders involve focusing too much on your weight, body shape and food, leading to dangerous eating behaviors. These behaviors can significant  Read More

  • Enterovirulent e. coli (eec)

    Enterovirulent E. coli (EEC) facts Enterovirulent E. coli (EEC) are bacteria that comprise several groups of E. coli serovars, all of which may cause diarrhea and other problems in the intestines. EEC bacteria can cause a wide range of symptoms ranging from mild to bloody diarrhea, nausea, vomiting, stomach cramping and dehydration. Different groups often produce less (EAEC group) or more intense symptoms (EHEC group)  Read More

  • Esophageal aperistalsis

    Achalasia is a rare disorder of the esophagus, the tube that carries food from the throat to the stomach. It is characterized by enlargement of the esophagus, impaired ability to push food down toward the stomach (peristalsis), and failure of the ring-shaped muscle at the bottom of the esophagus, the lower esophageal sphincter (LES), to relax. It is the contraction and relaxation of the sphincter that moves food through the tube.  Read More

  • Excessive gas

    If frequent gas has you concerned, it may help to know what's happening in your body. Do you constantly burp, pass gas, or feel bloated? The body naturally produces gas, and produces even more if you eat certain foods, particularly if you've just increased the amount of fiber in your diet. Even if you feel like you suffer from excessive gas, it's probably a normal amount. But if too much gas is making you feel uncomfortable, th  Read More

  • Exogenous hypertriglyceridemia

    Familial lipoprotein lipase (LPL) deficiency is a rare genetic metabolic disorder characterized by a deficiency of the enzyme lipoprotein lipase. Deficiency of this enzyme prevents affected individuals from properly digesting certain fats and results in massive accumulation of fatty droplets called chylomicrons in the circulation (chylomicronemia) and consequently also an increase of the plasma concentration of fatty substances called triglyce  Read More

  • Familial alpha-lipoprotein deficiency

    Tangier Disease is an inherited blood disorder involving decreased concentrations of fat compounds in the blood called high-density lipoproteins (sometimes called "good cholesterol"). Large amounts of these compounds may accumulate in certain organs of the body causing tissue discoloration. In later stages, these accumulations may cause organ enlargement and/or blood circulation problems.  Read More

  • Familial jaundice

    Gilbert syndrome is a mild genetic liver disorder in which the body cannot properly process bilirubin, a yellowish waste product that is formed when old or worn out red blood cells are broken down (hemolysis). Individuals with Gilbert syndrome have elevated levels of bilirubin (hyperbilirubinemia), because they have a reduced level of a specific liver enzyme required for elimination of bilirubin. Most affected individuals have no symptoms (asy  Read More

  • Folate deficiency anemia

    Megaloblastic anemia is a condition in which the bone marrow produces unusually large, structurally abnormal, immature red blood cells (megaloblasts). Bone marrow, the soft spongy material found inside certain bones, produces the main blood cells of the body -red cells, white cells, and platelets. Anemia is a condition characterized by the low levels of circulating, red blood cells. Red blood cells are released from the marrow into the bloodst  Read More

  • Fucosidase deficiency

    Fucosidosis is a rare genetic disorder characterized by deficiency of the enzyme alpha-L-fucosidase, which is required to break down (metabolize) certain complex compounds (e.g., fucose-containing glycolipids or fucose-containing glycoproteins). Fucose is a type of the sugar required by the body to perform certain functions (essential sugar). The inability to breakdown fucose-containing compounds results in their accumulation in various tissue  Read More

  • Galactosemia

    Galactosemia is a rare, hereditary disorder of carbohydrate metabolism that affects the body's ability to convert galactose (a sugar contained in milk, including human mother's milk) to glucose (a different type of sugar). Galactose is converted to glucose by a series of three enzyme reactions. The disorder is caused by a deficiency of an enzyme known as "galactose-1-phosphate uridyl transferase" which is vital to this process.Gala  Read More

  • Galt deficiency

    Galactosemia is a rare, hereditary disorder of carbohydrate metabolism that affects the body's ability to convert galactose (a sugar contained in milk, including human mother's milk) to glucose (a different type of sugar). Galactose is converted to glucose by a series of three enzyme reactions. The disorder is caused by a deficiency of an enzyme known as "galactose-1-phosphate uridyl transferase" which is vital to this process.Gala  Read More

  • Gastric banding

    Obesity is a growing concern. By medical standards, obesity is defined as having a body mass index (BMI) of over 30 kg/m2. While lifestyle modification remains the cornerstone for treatment, surgical options are becoming more popular. One of the surgical treatments for obesity is called gastric banding, commonly known as lap-band surgery. Some of the specifics of gastric banding will be addressed in this article. What is gastric bandin  Read More

  • Gastric ulcer

    Though ulcers often heal on their own, you shouldn't ignore their warning signs. If not properly treated, ulcers can lead to serious health problems, including: Bleeding Perforation (a hole through the wall of the stomach) Gastric outlet obstruction from swelling or scarring that blocks the passageway leading from the stomach to the small intestine Taking NSAIDs can lead to an ulcer without an  Read More

  • Gastritis

    Gastritis is inflammation of the lining of the stomach. Unfortunately, the term "gastritis" has been misused to include many different upper abdominal problems, but true gastritis refers to the stomach lining (gastric mucosa) that is inflamed. All or part of the gastric mucosa may be involved. Gastritis may be classified as acute or chronic. Acute gastritis may be characterized as erosive (damaged areas where mucosal cells are disrupted or mis  Read More

  • Gastroenteritis (stomach flu)

    Definition of gastroenteritis Gastroenteritis (often referred to as the "stomach flu," however, it is not related to the influenza virus. Gastroenteritis is a nonspecific term for various inflammatory problems in the gastrointestinal tract with the most common symptoms and signs being diarrhea, nausea, vomiting, and abdominal pains. As previously mentioned, although it is not caused by influenza viruses, gastroenteritis  i  Read More

  • Gastroenteritis, eosinophilic

    Eosinophilic gastroenteritis is a rare digestive disease characterized by the triad of eosinophilic infiltration of segments of the gastrointestinal tract, abnormalities of gastrointestinal function (varying from dyspepsia and obstruction to diarrhea and ascites) and exclusion of other diseases with peripheral eosinophilia.  Read More

  • Gastroesophageal laceration-hemorrhage

    Mallory-Weiss syndrome refers to a tear or laceration of the mucous membrane, most commonly at the point where the esophagus and the stomach meet (gastroesophageal junction). Such a tear may result in severe bleeding from the gastrointestinal tract. The immediate cause of the lesion is usually a protracted period of vomiting.  Read More

  • Gastrointestinal polyposis and ectodermal changes

    Cronkhite-Canada syndrome (CCS) is a very rare disease with symptoms that include loss of taste, intestinal polyps, hair loss, and nail growth problems. It is difficult to treat because of malabsorption that accompanies the polyps. CCS occurs primarily in older people (the average age is 59) and it is not believed to have a genetic component. There have been fewer than 400 cases reported in the past 50 years, primarily in Japan but also in the  Read More

  • Gastrointestinal stromal tumors

    Gastrointestinal stromal tumors (GIST) belong to a group of cancers known as soft tissue sarcomas. The number of new cases in the United States annually has been estimated to be 5,000-6,000. Tumors usually arise from the intestinal tract with the most common site being the stomach, followed by the small intestine, and the colon/rectum with rare cases arising in the esophagus. There are also tumors that appear to arise in the membranous tissue  Read More

  • Gastroparesis

    Gastroparesis facts Gastroparesis is a disease of the muscles of the stomach or the nerves controlling the muscles that causes the muscles to stop working. Gastroparesis results in inadequate grinding of food by the stomach, and poor emptying of food from the stomach into the intestine. The primary symptoms of gastroparesis are nausea, vomiting, and abdominal pain. Gastroparesis is best diagnosed by  Read More

  • Glioma-polyposis syndrome

    Turcot syndrome is a rare inherited disorder characterized by the association of benign growths (adenomatous polyps) in the mucous lining of the gastrointestinal tract with tumors of the central nervous system. Symptoms associated with polyp formation may include diarrhea, bleeding from the end portion of the large intestine (rectum), fatigue, abdominal pain, and weight loss. Affected individuals may also experience neurological symptoms, depe  Read More

  • Glucocerebrosidase deficiency

    Gaucher disease is a rare, inherited metabolic disorder in which deficiency of the enzyme glucocerebrosidase results in the accumulation of harmful quantities of certain fats (lipids), specifically the glycolipid glucocerebroside, throughout the body especially within the bone marrow, spleen and liver. The symptoms and physical findings associated with Gaucher disease vary greatly from case to case. Some individuals will develop few or no symp  Read More

  • Glucocerebrosidosis

    Gaucher disease is a rare, inherited metabolic disorder in which deficiency of the enzyme glucocerebrosidase results in the accumulation of harmful quantities of certain fats (lipids), specifically the glycolipid glucocerebroside, throughout the body especially within the bone marrow, spleen and liver. The symptoms and physical findings associated with Gaucher disease vary greatly from case to case. Some individuals will develop few or no symp  Read More

  • Glucose galactose malabsorption

    Glucose-galactose malabsorption is an inherited metabolic disorder characterized by the small intestine's inability to transport and absorb glucose and galactose (simple sugars or monosaccharides). Glucose and galactose have very similar chemical structures, and normally the same transport enzyme provides them with entry into specialized cells in the small intestine where they are absorbed and transferred to other cells. As a result of a mutat  Read More

  • Glutaricacidemia i

    Glutaricaciduria I (GA-I) is a rare hereditary metabolic disorder, caused by a deficiency of the enzyme glutaryl-CoA dehydrogenase. One of a group of disorders known as "organic acidemias," it is characterized by an enlarged head (macrocephaly), decreased muscle tone (hypotonia), vomiting, and excess acid in the blood. Affected individuals may also have involuntary movements of the trunk and limbs (dystonia or athetosis) and mental retardation  Read More

  • Glutaricacidemia ii

    Glutaricaciduria II is one of the conditions termed organic acidemias. Individuals with these conditions have a deficiency or absence of an enzyme that prevents them from breaking down certain chenicals in the body, resulting the accumulation of several organic acids in the blood and urine. Two enzymes that may be deficient in glutaricaciduria II are electron transfer flavoprotein (ETF) and ETF-ubiquinone oxidoreductase (ETF:QO). A complete en  Read More

  • Glycinemia nonketotic

    Nonketotic hyperglycinemia is an inborn error of metabolism characterized by the accumulation of large amounts of the amino acid glycine in blood, urine and, particularly, the cerebrospinal fluid (CSF). The metabolic block occurs in the conversion of glycine into smaller molecules. There are four forms of this disorder: a relatively common neonatal form, an infantile form, a mild-episodic form, and a late-onset form.  Read More

  • Glycogen storage disease i

    Glycogen storage diseases are a group of disorders in which stored glycogen cannot be metabolized into glucose to supply energy for the body. Type I glycogen storage disease is inherited as an autosomal recessive genetic disorder. Glycogen storage disease type I (GSDI) is characterized by accumulation of glycogen and fat in the liver and kidneys that can result in an enlarged liver and kidneys and growth retardation leading to short stature. G  Read More

  • Glycogen storage disease iii

    Forbes disease (GSD-III) is one of several glycogen storage disorders (GSD) that are inherited as autosomal recessive traits. Symptoms are caused by a lack of the enzyme amylo-1,6 glucosidase (debrancher enzyme). This enzyme deficiency causes excess amounts of an abnormal glycogen (the stored form of energy that comes from carbohydrates) to be deposited in the liver, muscles and, in some cases, the heart. There are two forms of thi  Read More

  • Glycogen storage disease vi

    Hers disease is a genetic metabolic disorder caused by a deficiency of the enzyme, liver phosphorylase. This enzyme is necessary to break down (metabolize) glycogen, a carbohydrate that is stored in the liver and muscle and used for energy. Deficiency of this enzyme results in the abnormal accumulation of glycogen in the body. Hers disease is one of a group of disorders known as the glycogen storage disorders. It is characterized by enlargemen  Read More

  • Glycogen storage disease vii

    Glycogen storage diseases are a group of disorders in which stored glycogen cannot be metabolized into glucose to supply energy for the body. Glycogen storage disease type VII (GSD VII) is characterized by weakness, pain and stiffness during exercise. GSD VII is caused by abnormalities in the muscle phosphofructokinase gene that results in a deficiency of the phosphofructokinase enzyme. This enzyme deficiency leads to a reduced amount of energ  Read More

  • Glycogenosis type vii

    Glycogen storage diseases are a group of disorders in which stored glycogen cannot be metabolized into glucose to supply energy for the body. Glycogen storage disease type VII (GSD VII) is characterized by weakness, pain and stiffness during exercise. GSD VII is caused by abnormalities in the muscle phosphofructokinase gene that results in a deficiency of the phosphofructokinase enzyme. This enzyme deficiency leads to a reduced amount of energ  Read More

  • Glycosylasparaginase deficiency

    Aspartylglycosaminuria is a very rare genetic disorder that is concentrated among persons of Finnish decent, but is also found, even more rarely, in other populations around the world. It is an inborn error of metabolism, and one of the lysosomal storage diseases. It becomes apparent after the infant is a few months old. Major symptoms may include coarse facial features, spine and eye deformities, behavior problems and mental retardation. Aspa  Read More

  • Guenther porphyria

    Congenital erythropoietic porphyria (CEP) is a very rare inherited metabolic disorder resulting from the deficient function of the enzyme uroporphyrinogen lll cosynthase (UROS), the fourth enzyme in the heme biosynthetic pathway. Due to the impaired function of this enzyme, excessive amounts of particular porphyrins accumulate, particularly in the bone marrow, plasma, red blood cells, urine, teeth, and bones. The major symptom of this disorder  Read More

  • Hal deficiency

    Histidinemia is a rare hereditary metabolic disorder characterized by a deficiency of the enzyme histidase, which is necessary for the metabolism of the amino acid histidine. The concentration of histidine is elevated in the blood. Excessive amounts of histidine, imidazole pyruvic acid, and other imidazole metabolism products are excreted in the urine. The majority of individuals with histidinemia have no obvious symptoms that would indicate t  Read More

  • Hartnup disease

    Hartnup disease is a rare metabolic disorder inherited as an autosomal recessive trait. It involves an inborn error of amino acid metabolism as well as niacin deficiency. Factors that may precipitate acute attacks of this disorder may include poor nutrition, exposure to sunlight, sulphonamide medications and/or psychological stress. Hartnup disease may be marked by skin problems, coordination impairment, vision problems, mild mental retardatio  Read More

  • Hartnup disorder

    Hartnup disease is a rare metabolic disorder inherited as an autosomal recessive trait. It involves an inborn error of amino acid metabolism as well as niacin deficiency. Factors that may precipitate acute attacks of this disorder may include poor nutrition, exposure to sunlight, sulphonamide medications and/or psychological stress. Hartnup disease may be marked by skin problems, coordination impairment, vision problems, mild mental retardatio  Read More

  • Hiatal hernia

    The esophagus connects the mouth and throat to the stomach. It passes through the chest cavity and enters the abdominal cavity through a hole in the diaphragm called the esophageal hiatus. The term hiatal hernia describes a condition where a part of the stomach that normally is located in the abdominal cavity pushes or protrudes through the esophageal hiatus to rest within the chest cavity.  Read More

  • Hiccough, chronic

    A hiccup is an involuntary spasmodic contraction of the muscle at the base of the lungs (diaphragm) followed by the rapid closure of the vocal cords. Usually, hiccups last for a few hours or, occasionally, a day or two. However, chronic hiccups are ones that continue for an extended period of time. Episodes that last for more than two days and less than a month are sometimes called persistent hiccups. On rare occasions, hiccups persist even lo  Read More

  • Hill diarrhea

    Tropical Sprue is a rare digestive disease in which the small intestine's ability to absorb nutrients is impaired (malabsorption). Consequently, nutritional deficiencies and abnormalities in the mucous lining of the small intestine may be present. The exact cause of this disorder is not known, however it may be related to environmental and nutritional conditions in the tropical regions where it is most prevalent.  Read More

  • Histidinemia

    Histidinemia is a rare hereditary metabolic disorder characterized by a deficiency of the enzyme histidase, which is necessary for the metabolism of the amino acid histidine. The concentration of histidine is elevated in the blood. Excessive amounts of histidine, imidazole pyruvic acid, and other imidazole metabolism products are excreted in the urine. The majority of individuals with histidinemia have no obvious symptoms that would indicate t  Read More

  • Homocystinuria

    Homocysteine is an amino acid that is produced by the body by chemically altering adenosine. Amino acids are naturally made products, which are the building blocks of all the proteins in the body.    Read More

  • Hutchinson-weber-peutz syndrome

    Peutz Jeghers syndrome (PJS) is an autosomal dominant genetic condition characterized by multiple benign polyps called hamartomas on the mucous lining in the gastrointestinal system. These polyps occur most often in the small intestine but also occur in the stomach and large intestine. Affected individuals also have dark skin discoloration, especially around the eyes, nostrils, mucous membranes of the mouth, perianal area and inside the mouth.  Read More

  • Hyper-beta carnosinemia

    Carnosinemia is a very rare inherited metabolic disorder characterized by impaired neurological function and developmental delays. Symptoms that begin during infancy may include drowsiness, seizures that may be accompanied by involuntary jerking muscle movements of the arms, legs, or head (myoclonic seizures), and mental retardation.  Read More

  • Hyperammonemia, type ii

    Ornithine transcarbamylase (OTC) deficiency is a rare X-linked genetic disorder characterized by complete or partial lack of the enzyme ornithine transcarbamylase (OTC). OTC is one of six enzymes that play a role in the break down and removal of nitrogen the body, a process known as the urea cycle. The lack of the OTC enzyme results in excessive accumulation of nitrogen, in the form of ammonia (hyperammonemia), in the blood. Excess ammonia, wh  Read More

  • Ibs (irritable bowel syndrome) triggers and prevention

    IBS triggers and prevention facts Foods and drinks that dehydrate the body can trigger constipation in IBS patients. Fatty foods can trigger diarrhea in people with IBS; others may also do so but specific food triggers of diarrhea and other IBS symptoms may vary between individuals. Stress and anxiety can stimulate IBS symptoms in many IBS patients Drugs like antibiotics, antidepressants and /or medicin  Read More

  • Ichthyotic neutral lipid storage disease

    Chanarin Dorfman syndrome is a rare hereditary disorder of fat (lipid) metabolism. It is characterized by scaly skin (ichthyosis), degeneration of the muscles (myopathy), and abnormal white blood cells with small spaces (vacuoles) filled with fat (lipids).  Read More

  • Immunodeficiency-3

    Hyper-IgM Syndrome (HIM) is a rare genetic (primary) immunodeficiency disorder that is typically inherited as an X-linked recessive genetic trait. Symptoms and physical findings associated with the disorder usually become apparent in the first or second year of life. Hyper-IgM Syndrome may be characterized by recurrent pus-producing (pyogenic) bacterial infections of the upper and lower respiratory tract including the sinuses (sinusitis) and/o  Read More

  • Indigestion (dyspepsia, upset stomach)

    Dyspepsia (indigestion) facts Dyspepsia is a functional disease in which the gastrointestinal organs, primarily the stomach and first part of the small intestine, function abnormally. It is a chronic disease in which the symptoms fluctuate in frequency and intensity. Theories of the cause of dyspepsia include abnormal input from intestinal sensory nerves, abnormal processing of input from the sensory nerves, and abnorm  Read More

  • Infectious jaundice

    Weil syndrome, a rare infectious disorder, is a severe form of the bacterial infection caused by Leptospira bacteria known as leptospirosis. Weil syndrome is characterized by dysfunction of the kidneys and liver, abnormal enlargement of the liver (hepatomegaly), persistent yellowing of the skin, mucous membranes, and whites of the eyes (jaundice), and/or alterations in consciousness. In most cases, Weil syndrome occurs among individuals who ar  Read More

  • Interstitial cystitis (ic)/painful bladder syndrome (pbs)

    Interstitial cystitis facts PBS/IC is an inflammatory disease of the bladder that can cause ulceration and bleeding of the bladder's lining and can lead to scarring and stiffening of the bladder. The symptoms of PBS/IC are pelvic pain, frequent urination, urinary urgency. PBS/IC has a variable clinical course, meaning that symptoms can appear and disappear over time.  Read More

  • Intestinal gas (belching, bloating, flatulence)

    Intestinal gas, a buildup of air in the digestive tract, is usually not noticed until you burp or pass it rectally (flatulence). The entire digestive tract, from the stomach to the rectum, contains intestinal gas as the natural result of swallowing and digestion. In fact, certain foods, such as beans, are not fully broken down until they reach the large intestine (colon), where bacteria act on them.  Read More

  • Intussusception

    Intussusception facts Intussusception is the infolding (telescoping) of one segment of the intestine within another. Intussusception usually results in a blockage of the intestine. Intussusception occurs primarily in infants (boys more often than girls) but can also occur in adults and older children. The primary symptoms of intussusception include abdominal pain and vomiting. Early diagno  Read More

  • Irritable bowel syndrome (ibs)

    What is the definition of irritable bowel syndrome (IBS)? Irritable bowel syndrome (IBS) is a gastrointestinal disorder characterized by the presence of a cluster of symptoms and signs in adult or children that include cramping, abdominal pain, increased gas, altered bowel habits, food intolerance, and bloating (distention). Irritable bowel syndrome is a "functional" disorder. This term refers to the changes in the functioning  Read More

  • Irritable bowel syndrome in children

    What is irritable bowel syndrome (IBS)? Irritable bowel syndrome is a functional gastrointestinal (GI) disorder, meaning it is a problem caused by changes in how the GI tract works. Children with a functional GI disorder have frequent symptoms, but the GI tract does not become damaged. IBS is not a disease; it is a group of symptoms that occur together. The most common symptoms of IBS are abdominal pain or discomfort, often reported as  Read More

  • Jegher's syndrome

    Peutz Jeghers syndrome (PJS) is an autosomal dominant genetic condition characterized by multiple benign polyps called hamartomas on the mucous lining in the gastrointestinal system. These polyps occur most often in the small intestine but also occur in the stomach and large intestine. Affected individuals also have dark skin discoloration, especially around the eyes, nostrils, mucous membranes of the mouth, perianal area and inside the mouth.  Read More

  • Lactose intolerance

    Lactose intolerance is the inability to digest and absorb lactose (the sugar in milk) that results in gastrointestinal symptoms when milk or food products containing milk are consumed.          Read More

  • Lactose intolerance (lactase deficiency)

    The small intestine is a hollow tube that runs from the stomach to the large intestine (colon). People with lactose intolerance are unable to fully digest the sugar (lactose) in milk. As a result, they have diarrhea, gas and bloating after eating or drinking dairy products. The condition, which is also called lactose malabsorption, is usually harmless, but its symptoms can be uncomfortable. Too little of an enzyme produced in y  Read More

  • Lactose tolerance test

    The lactose tolerance test is a test for diagnosing an intolerance of ingested lactose. Lactose intolerance is a genetic condition in which individuals are unable to digest and absorb the lactose sugar in cow's milk. What is lactose intolerance? Lactose intolerance is the inability to digest the sugar in milk, lactose. Milk is an important source of nutrition for children and even some adults. With normal lactose tolerance, all  Read More

  • Lcad deficiency

    Very long-chain acyl-CoA dehydrogenase deficiency (VLCAD) is a rare genetic disorder of fatty acid metabolism that is transmitted as an autosomal recessive trait. It occurs when an enzyme needed to break down certain very long-chain fatty acids is missing or not working properly. VLCAD is one of the metabolic diseases known as fatty acid oxidation (FOD) diseases. In the past, the name long-chain acyl-CoA dehydrogenase deficiency (LCAD) was app  Read More

  • Lipd deficiency

    Familial lipoprotein lipase (LPL) deficiency is a rare genetic metabolic disorder characterized by a deficiency of the enzyme lipoprotein lipase. Deficiency of this enzyme prevents affected individuals from properly digesting certain fats and results in massive accumulation of fatty droplets called chylomicrons in the circulation (chylomicronemia) and consequently also an increase of the plasma concentration of fatty substances called triglyce  Read More

  • Lipid storage disease

    Chanarin Dorfman syndrome is a rare hereditary disorder of fat (lipid) metabolism. It is characterized by scaly skin (ichthyosis), degeneration of the muscles (myopathy), and abnormal white blood cells with small spaces (vacuoles) filled with fat (lipids).  Read More

  • Listeriosis (listeria monocytogenes infection)

    Listeriosis is an infection caused by a gram-positive motile bacterium named Listeria monocytogenes. The infection produces fever, muscle aches, and, in many people, diarrhea. Severe infections can cause headaches, meningitis, convulsions, and death. Most healthy people exposed to the bacteria have minor or no symptoms, but a few people, especially the elderly, pregnant females and their fetus, newborns, and anyone with a compromised immune sy  Read More

  • Lpl deficiency

    Familial lipoprotein lipase (LPL) deficiency is a rare genetic metabolic disorder characterized by a deficiency of the enzyme lipoprotein lipase. Deficiency of this enzyme prevents affected individuals from properly digesting certain fats and results in massive accumulation of fatty droplets called chylomicrons in the circulation (chylomicronemia) and consequently also an increase of the plasma concentration of fatty substances called triglyce  Read More

  • Lysosomal alpha-n-acetylgalactosaminidas...

    Schindler disease is a rare inherited metabolic disorder characterized by the deficient activity of the lysosomal enzyme alpha-N-acetylgalactosaminidase (alpha-NAGA or alpha-galactosidase B). The enzyme defect leads to the abnormal accumulation of certain complex compounds (glycosphingolipids, glycoproteins, and oligosaccharides), which have terminal or preterminal N-acetylgalactosaminyl residues in many tissues of the body and in urine. Two m  Read More

  • Macular degeneration

    Macular degeneration facts The macula is in the center of the retina, the light-sensitive layer of tissue at the back of the eye. The macula is responsible for central vision (straight-ahead vision). Degeneration of the macula occurs most often after the age of 60 years and is termed age-related macular generation (AMD). AMD is a painless condition. There are two types of AMD: dry AMD and wet AMD. S  Read More

  • Malignant large bowel cystadenocarcinoma

    Pseudomyxoma peritonei is a rare malignant growth characterized by the progressive accumulation of mucus-secreting (mucinous) tumor cells within the abdomen and pelvis. The disorder develops after a small growth (polyp) located within the appendix bursts through the wall of the appendix, and spreads mucus-producing tumor cells throughout the surrounding surfaces (e.g., the membrane that lines the abdominal cavity [peritoneum]). As mucinous tum  Read More

  • Mallory weiss syndrome

    Mallory-Weiss syndrome refers to a tear or laceration of the mucous membrane, most commonly at the point where the esophagus and the stomach meet (gastroesophageal junction). Such a tear may result in severe bleeding from the gastrointestinal tract. The immediate cause of the lesion is usually a protracted period of vomiting.  Read More

  • Mallory-weiss laceration

    Mallory-Weiss syndrome refers to a tear or laceration of the mucous membrane, most commonly at the point where the esophagus and the stomach meet (gastroesophageal junction). Such a tear may result in severe bleeding from the gastrointestinal tract. The immediate cause of the lesion is usually a protracted period of vomiting.  Read More

  • Methylmalonic acidemia

    The methylmalonic acidemias are organic acidemias caused by an enzymatic defect in the metabolism of four amino acids (methionine, threonine, isoleucine and valine). This results in an abnormally high level of acid in the blood (academia) and body tissues. In the acute form, drowsiness, coma, and seizures may occur. Mental retardation is a long-term consequence. The disorder may be caused by a deficiency of one or more of the enzymes methylmal  Read More

  • Microscopic colitis collagenous type

    Collagenous colitis is a rare digestive disorder that primarily affects females and typically becomes apparent during middle age. The disorder is characterized by inflammatory changes of the mucous membranes (mucosa) of the colon (colitis) and abnormal accumulation (excessive deposition) of the protein collagen beneath the surface (epithelial) layer of the mucosa (thickened subepithelial collagenous bands). The colon is the major portion of th  Read More

  • Microvillus inclusion disease

    Microvillus inclusion disease is an extremely rare inherited intestinal disorder (enteropathy) that is typically apparent within hours or days after birth. The disorder is characterized by chronic, severe, watery diarrhea and insufficient absorption (malabsorption) of necessary nutrients due to incomplete development (hypoplasia) and/or degeneration (atrophy) of certain cells of the wall of the small intestine (e.g., hypoplastic villus atrophy  Read More

  • Milk intolerance

    Milk Allergy vs Lactose intolerance Milk allergy  Read More

  • Mucopolysaccharidoses

    The mucopolysaccharidoses (MPS) are a group of inherited lysosomal storage disorders. Lysosomes function as the primary digestive units within cells. Enzymes within lysosomes break down or digest particular nutrients, such as certain carbohydrates and fats. In individuals with MPS disorders, deficiency or malfunction of specific lysosomal enzymes leads to an abnormal accumulation of certain complex carbohydrates (mucopolysaccharides or glycosa  Read More

  • Multiple endocrine adenomatosis

    Multiple endocrine neoplasia is a group of disorders that affect the body's network of hormone-producing glands called the endocrine system. Hormones are chemical messengers that travel through the bloodstream and regulate the function of cells and tissues throughout the body. Multiple endocrine neoplasia typically involves tumors (neoplasia) in at least two endocrine glands; tumors can also develop in other organs and tissues. These growths c  Read More

  • Multiple sulfatase deficiency (doc 13)

    Multiple sulfatase deficiency is a very rare hereditary metabolic disorder in which all of the known sulfatase enzymes (thought to be seven in number) are deficient or inoperative. Major symptoms include mildly coarsened facial features, deafness, and an enlarged liver and spleen (hepatosplenomegaly). Abnormalities of the skeleton may occur, such as curvature of the spine (lumbar kyphosis) and the breast bone. The skin is usually dry and scaly  Read More

  • Neapolitan fever

    Brucellosis is an infectious disease that affects livestock and may be transmitted to humans. It is rare in the United States, but occurs more frequently in other parts of the world. The disorder is caused by one of four different species of bacteria that belong to the genus Brucella. Initial symptoms of infection may be nonspecific including fevers, muscle pain, headache, loss of appetite, profuse sweating, and physical weakness. In some case  Read More

  • Nonspherocytic hemolytic anemia congenit...

    Red cell pyruvate kinase deficiency is a hereditary blood disorder characterized by a deficiency of the enzyme pyruvate kinase. Physical findings associated with the disorder may include reduced levels of oxygen-carrying hemoglobulin in the blood due to premature destruction of red blood cells (hemolytic anemia); abnormally increased levels of bilirubin in the blood (hyperbilirubinemia); abnormal enlargement of the spleen (splenomegaly); and/o  Read More

  • Nonsteroidal anti-inflammatory drugs (nsaids) and ulcers

    Nonsteroidal anti-inflammatory drugs (NSAIDs) are commonly prescribed medications for the inflammation of arthritis and other body tissues, such as in tendinitis and bursitis. The also are used for minor aches and pains. Examples of NSAIDs include: aspirin, indomethacin (Indocin), ibuprofen (Motrin), naproxen (Naprosyn), piroxicam (Feldene), nabumetone (Relafen), and  Read More

  • Norovirus infection

    A norovirus is a small virus that contains RNA and is surrounded by a protein coating. By sequencing the RNA, scientists have discovered that there are many different types of norovirus. Originally, strains were named based on the city in which they were first identified. Thus, one common strain used to be called Norwalk virus. Based on genetic typing, we now know that there are at least 25 different strains of norovirus that affect humans. Th  Read More

  • Pancreatic cysts

    What is the pancreas? The pancreas is an organ approximately six inches long that is located in the abdomen behind the stomach and in front of the spine and aorta. The pancreas is divided into three regions; the head, the body, and the tail. The head of the pancreas is located on the right side of the abdomen adjacent to the duodenum. The tail is on the left side of the abdomen, and the body lies between the head and the tail.  Read More

  • Peptic ulcer disease

    What is a peptic ulcer? A peptic ulcer is a break in the inner lining of the esophagus, stomach, or duodenum. A peptic ulcer of the stomach is called a gastric ulcer; of the duodenum, a duodenal ulcer; and of the esophagus, an esophageal ulcer. Peptic ulcers occur when the lining of these organs is corroded by the acidic digestive (peptic) juices which are secreted by the cells of the stomach. A peptic ulcer differs from an erosion bec  Read More

  • Peritonitis

    Peritonitis is inflammation of the peritoneum — a silk-like membrane that lines your inner abdominal wall and covers the organs within your abdomen — that is usually due to a bacterial or fungal infection. Peritonitis can result from any rupture (perforation) in your abdomen, or as a complication of other medical conditions. Peritonitis requires prompt medical attention to fight the infection and, if necessary, to treat any  Read More

  • Phosphoenolpyruvate carboxykinase

    PEPCK deficiency is an extremely rare disorder of carbohydrate metabolism inherited as an autosomal recessive trait. A deficiency of the enzyme phosphoenolpyruvate carboxykinase (PEPCK), which is a key enzyme in the conversion of proteins and fat to glucose (gluconeogenesis), causes an excess of acid in the circulating blood (acidemia). Characteristics of this disorder are low blood sugar (hypoglycemia), loss of muscle tone, liver enlargement  Read More

  • Phosphoglycerate kinase deficiency

    Phosphoglycerate kinase deficiency is an extremely rare inherited metabolic disorder characterized by deficiency of the enzyme phosphoglycerate kinase. This enzyme is essential for the breakdown of glycogen, resulting in the release of energy. Symptoms and findings associated with the disorder may include low levels of circulating red blood cells (hemolytic anemia); varying degrees of intellectual disability; rapidly changing emotions (emotion  Read More

  • Phytanic acid storage disease

    Refsum disease is one of a family of genetic disorders known as the leukodystrophies in which, as a consequence of the disruption of lipid metabolism, the myelin sheath that insulates and protects the nerves of the brain fails to grow. It is inherited as an autosomal recessive trait. It is characterized by progressive loss of vision (retinitis pigmentosa); degenerative nerve disease (peripheral neuropathy); failure of muscle coordination (atax  Read More

  • Pinworms

    Pinworms facts Pinworm infections are caused by worm-like parasites that infect humans' intestines and rectal/anal areas. Young children and their household members are at risk for pinworm infections. Pinworms are visible. They range in size from 2-13 mm, are white, and resemble a worm but the pinworm eggs are small, transparent and can be seen only with a microscope. Pinworm infections are spread p  Read More

  • Portal hypertension

    The liver serves many purposes within the body from making carbohydrates, proteins and fats to synthesizing bile to help digest found. Because of this, the liver requires a significant blood supply. As opposed to other organs in the body, the majority of this blood supply (75%) comes from the venous system through the portal system. Blood vessels from the stomach, small intestine, pancreas, and spleen converge and form the portal vein deliveri  Read More

  • Propionic acidemia

    Propionic acidemia is a rare metabolic disorder affecting from 1/20,000 to 1/250,000 individuals in various regions of the world. It is characterized by deficiency of propionyl-CoA carboxylase, an enzyme involved in the breakdown (catabolism) of the chemical “building blocks” (amino acids) of proteins. Symptoms most commonly become apparent during the first weeks of life and may include abnormally diminished muscle tone (hypotonia)  Read More

  • Pyroglutamicaciduria

    5-Oxoprolinuria is a biochemical finding that can arise from two underlying metabolic disorders. It is characterized by excretion of massive amounts of the chemical 5-oxoproline.  Read More

  • Reflux laryngitis

    Why does reflux laryngitis occur? Reflux is caused by weakness in the muscle at the junction of the esophagus with the stomach. Normally, this muscular valve, or sphincter, functions to keep food and stomach acid from moving upward from the stomach to the esophagus and larynx. This valve opens to allow food into the stomach and closes to keep the stomach's contents from coming back up. The backward movement of stomach contents (gastric  Read More

  • Rheumatic diseases

    A rheumatic disease affects the joints and connective tissues. Arthritis, gout, and ankylosing spondylitis are just three of the more than 100 types of rheumatic diseases. More than 100 diseases are classified as rheumatic diseases, including many types of arthritis. Arthritic conditions are distinguished by red, swollen joints and inflamed connective tissues such as cartilage, synovial tissue, and tendons. Other rheumatic diseases are  Read More

  • Salmonella typhi infection

    Typhoid fever is a bacterial infection that is rare in the United States. However, it is not rare in many other countries. Major symptoms may include unusually high fever, headache, loss of appetite, fatigue, abdominal pain and diarrhea.  Read More

  • Scad deficiency

    Short chain acyl-CoA dehydrogenase (SCAD) deficiency is a rare autosomal recessive genetic disorder of fatty acid catabolism belonging to a group of diseases known as fatty acid oxidation disorders (FOD). It occurs because of a deficiency of the short-chain acyl-CoA dehydrogenase (SCAD) enzyme. Although SCAD was initially thought to produce severe problems including progressive muscle weakness, hypotonia, acidemia, developmental de  Read More

  • Scad deficiency, congenital (generalized...

    Short chain acyl-CoA dehydrogenase (SCAD) deficiency is a rare autosomal recessive genetic disorder of fatty acid catabolism belonging to a group of diseases known as fatty acid oxidation disorders (FOD). It occurs because of a deficiency of the short-chain acyl-CoA dehydrogenase (SCAD) enzyme. Although SCAD was initially thought to produce severe problems including progressive muscle weakness, hypotonia, acidemia, developmental de  Read More

  • Schatzki ring (schatzki's ring)

    A Schatzki ring is a narrowing of the lower esophagus that can cause dysphagia. Dysphagia means difficulty in swallowing. Dysphagia itself is rather common and occurs in about 3 percent of the population. The Schatzki ring is comprised of a small tissue fold that partially blocks the esophagus, leading to the dysphagia. The Schatzki ring was first identified in asymptomatic people in 1944. It’s named for Richard Schatzki, the doc  Read More

  • Sphingomyelinase deficiency

    Niemann-Pick disease (NPD) is a group of rare inherited disorders of fat metabolism. At least five types of Niemann-Pick disease have been identified (NPD types A, B, C, D, and E). Symptoms of types A and B occur as a result of a deficiency of the enzyme acid sphingomyelinase (ASM), which is needed to break down sphingomyelin, a fatty substance found mostly in the brain and nervous system. This deficiency results in abnormal accumulation of ex  Read More

  • Sucrase-isomaltase deficiency, congenita...

    Disaccharide intolerance I is a rare inherited metabolic disorder characterized by the deficiency or absence of the enzymes sucrase and isomaltase. This enzyme complex (sucrase-isomaltase) assists in the breakdown of a certain sugars (i.e., sucrose) and certain products of starch digestion (dextrins). The sucrase-isomaltase enzyme complex is normally found within the tiny, finger-like projections (microvilli or brush border) lining the small i  Read More

  • Toxoplasmosis

    Toxoplasmosis is an infection caused by a single-celled parasite called Toxoplasma gondii. The infection is most commonly acquired from contact with cats and their feces or with raw or undercooked meat. The U.S. Centers for Disease Control and Prevention (CDC) estimates that more than 60 million people in the United States may carry the Toxoplasma parasite, but very few have symptoms because a healthy immune system usually keeps the pa  Read More

  • Travelers' diarrhea

    Travelers' diarrhea is defined by most experts as three or more unformed stools in a 24 hour time period, passed by a person who is traveling. Travelers' diarrhea is commonly accompanied by abdominal cramps, nausea, and bloating. Travelers' diarrhea is a general term and does not specify any cause. Travelers' from temperate regions of the world frequently experience diarrhea four days to two weeks after arriving in certain other areas of the w  Read More

  • Trichinosis (trichinellosis)

    Trichinosis (trik-ih-NO-sis), sometimes called trichinellosis (trik-ih-nuh-LOW-sis), is a type of roundworm infection. These roundworm parasites (trichinella) use a host body to live and reproduce. These parasites infect animals such as bears, cougars, walruses, foxes, wild boars and domestic pigs. You get the infection by eating the immature form of the roundworm (larvae) in raw or undercooked meat. When humans eat raw or undercooked  Read More

  • Tropical diarrhea

    Tropical Sprue is a rare digestive disease in which the small intestine's ability to absorb nutrients is impaired (malabsorption). Consequently, nutritional deficiencies and abnormalities in the mucous lining of the small intestine may be present. The exact cause of this disorder is not known, however it may be related to environmental and nutritional conditions in the tropical regions where it is most prevalent.  Read More

  • Tropical sprue

    Tropical Sprue is a rare digestive disease in which the small intestine's ability to absorb nutrients is impaired (malabsorption). Consequently, nutritional deficiencies and abnormalities in the mucous lining of the small intestine may be present. The exact cause of this disorder is not known, however it may be related to environmental and nutritional conditions in the tropical regions where it is most prevalent.  Read More

  • Typhoid

    What is typhoid fever? What is the history of typhoid fever? Typhoid fever is an acute illness associated with fever that is most often caused by the Salmonella typhi bacteria. It can also be caused by Salmonella paratyphi, a related bacterium that usually leads to a less severe illness. The bacteria are deposited through fecal contamination in water or food by a human carrier and are then spread to other people in the area. Typhoid fe  Read More

  • Ulcer

    Peptic ulcers are open sores that develop on the inside lining of your stomach and the upper portion of your small intestine. The most common symptom of a peptic ulcer is stomach pain.  Read More

  • Ulcerative colitis

    Ulcerative colitis is a chronic inflammation of the large intestine (colon). The colon is the part of the digestive system where water is removed from undigested material, and the remaining waste material is stored. The rectum is the end of the colon adjacent to the anus. In patients with ulcerative colitis, ulcers and inflammation of the inner lining of the colon lead to symptoms of abdominal pain, diarrhea, and rectal bleeding. Ulcer  Read More

  • Urea cycle disorder, arginino succinase ...

    Argininosuccinic aciduria is a rare inherited disorder characterized by deficiency or lack of the enzyme argininosuccinate lyase (ASL). Argininosuccinate lyase is one of six enzymes that play a role in the breakdown and removal of nitrogen from the body, a process known as the urea cycle. The lack of this enzyme results in excessive accumulation of nitrogen, in the form of ammonia (hyperammonemia), in the blood. Affected infants may experience  Read More

  • Urethral stricture

    What is the urethra? The urethra is the opening that allows urine to leave the bladder. In men, the urethra is a thin tube-like structure that starts from the lower opening of the bladder and traverses the entire length of the penis. In women, it is a shorter opening coming off the lower opening of bladder and is between 2.5 to 4 centimeters (cm) in length. The urethra has a sphincter that is normally closed to keep urine insid  Read More

  • Valinemia

    Valinemia is a very rare metabolic disorder. It is characterized by elevated levels of the amino acid valine in the blood and urine caused by a deficiency of the enzyme valine transaminase. This enzyme is needed in the breakdown (metabolism) of valine. Infants with valinemia usually have a lack of appetite, vomit frequently, and fail to thrive. Low muscle tone (hypotonia) and hyperactivity also occur.The breakdown of valine involve  Read More

  • Valproic acid, fetal effects from

    Fetal Valproate Syndrome is a rare congenital disorder caused by exposure of the fetus to valproic acid (dalpro, depakene, depakote, depakote sprinkle, divalproex, epival, myproic acid) during the first three months of pregnancy. Valproic acid is an anticonvulsant drug used to control certain types of seizures in the treatment of epilepsy. A small percentage of pregnant women who take this medication can have a child with Fetal Valproate Syndr  Read More

  • Vlcad

    Very long-chain acyl-CoA dehydrogenase deficiency (VLCAD) is a rare genetic disorder of fatty acid metabolism that is transmitted as an autosomal recessive trait. It occurs when an enzyme needed to break down certain very long-chain fatty acids is missing or not working properly. VLCAD is one of the metabolic diseases known as fatty acid oxidation (FOD) diseases. In the past, the name long-chain acyl-CoA dehydrogenase deficiency (LCAD) was app  Read More

  • Von frey's syndrome

    Frey syndrome is a rare disorder that most often occurs as a result of surgery in the area near the parotid glands. The parotid glands are the largest salivary glands in the body located just below the ears on either side of the face. The main symptoms of Frey syndrome are undesirable sweating and flushing occurring on the cheek, temple (temporal region), or behind the ears (retroauricular region) after eating certain foods, especially those t  Read More

  • Von gierke disease

    Glycogen storage diseases are a group of disorders in which stored glycogen cannot be metabolized into glucose to supply energy for the body. Type I glycogen storage disease is inherited as an autosomal recessive genetic disorder. Glycogen storage disease type I (GSDI) is characterized by accumulation of glycogen and fat in the liver and kidneys that can result in an enlarged liver and kidneys and growth retardation leading to short stature. G  Read More

  • Waldmann disease

    Primary intestinal lymphangiectasia (PIL) is a rare digestive disorder characterized by abnormally enlarged (dilatated) lymph vessels supplying the lining of the small intestine. The main symptoms are swelling of the limbs and abdominal discomfort. The disorder is usually diagnosed before three years of age but is sometimes diagnosed later in life.  Read More

  • Whipple disease

    Whipple disease is a rare disease resulting from bacterial infection that leads to inadequate absorption of nutrients (malabsorption) from the intestine. It is believed to result from infection with bacteria known as Tropheryma whippelii. The infection usually involves the small intestine, but over time, the disease may affect various parts of the body, including the heart, lungs, brain, and eyes.  Read More

  • Zinc deficiency, congenital

    Acrodermatitis enteropathica (AE) is a disorder of zinc metabolism that occurs in one of two forms: an inborn (congenital) form and an acquired form. The inborn form of AE is a rare genetic disorder characterized by intestinal abnormalities that lead to the inability to absorb zinc from the intestine. The lack of zinc presents, characteristically, as: (1) skin inflammation with pimples (pustular dermatitis) occurring around the mouth and/or an  Read More