Select a specific condition below to view its details.
- Argininosuccinic aciduria
Argininosuccinic aciduria (ASA) is a rare inherited disorder that causes elevated blood ammonia levels.If ammonia buildup in the blood is not detected and treated promptly, it can cause brain damage and even death.It is caused by changes (mutations) in the ASL gene that result in a deficiency.ASL (argininosuccinate lyase) is an enzyme that breaks down and eliminates nitrogen from the body. Read More
- Cps deficiency
Carbamoyl phosphate synthetase 1 CPS deficiency is a genetic disease that is passed down hereditarily, and hence there is always a risk that if your ancestors had it, you or your children could have it.When a gene is autosomal, it can be found on any chromosome other than the X or Y chromosomes (sex chromosomes).Like chromosomes, genes frequently exist in pairs.Recessive means that for a person to 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
Dehydration can occur due to many reasons. The prime reason is sweating. It can also be triggered by diarrhea or vomiting, which can quickly eliminate fluids from your body. All of these can trigger water and electrolyte loss in the body.The most important way to treat dehydration is to replace the electrolytes and fluids the body has lost. Restoring the electrolyte balance will prevent an individual from dehydrati Read More
- Hyper-beta carnosinemia
Hyper beta-carnosinemia is a rare inborn error in the metabolism of a dipeptide called carnosine that results in the accumulation of carnosine in muscle and brain tissues.Carnosine is formed of the amino acids alanine and histidine.The disease is confirmed with an amino-acid analysis of the blood.The affected individuals develop the symptoms of the disease within a year from birth.The def Read More
- Lipid storage disease
Lipid storage disease is a condition in which an enzyme in catabolism or transport of lipid is expressed in a lower quantity, or the expressed enzyme is non-functional. It leads to the accumulation of lipids in abnormally high quantities.SymptomsLipid storage diseases are genetic disorders, and hence, the defects are present from birth. The age at which affected individuals develop symptoms and progress Read More