Argininosuccinate lyase (ASL) catalyzes the lysis of arginine succinate into fumarate and arginine. This reaction replenishes arginine that initiates the urea cycle. ASL deficiency thus reduces the concentration of arginine and slows down the fixation of nitrogen into urea.Symptoms of Argininosuccinate lyase DeficiencyNeonatal onset form is characterized by hyperammonemia within a few days after the bir  Read More

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

Davidson’s disease or Microvillus inclusion disease is an extremely rare and life-threatening intestinal disorder, that usually shows up within a few hours or days after birth.Generally, each cell in the small intestine is surrounded by tiny finger-like structures, villi, and microvilli. It will increase the surface area of the cell, thereby increasing the rate of absorption.These cells in the affect  Read More

Dubin-Jhonson syndrome is a rare genetic liver disorder that is inherited by the autosomal recessive pattern ( inherit one mutated gene from each parent ). It is characterized by the breakdown of red blood cells into the yellowish pigment in the blood that results in bilirubin buildup. Moreover, this buildup is released into the bile, a digestive juice secreted by the liver. Moreover, this pigment gives stool a deep yellowish  Read More

Galactosemia is a disorder that affects the bodily processing of simple sugar called galactose. The signs and symptoms of galactosemia result from an inability to use galactose to produce energy.There are several types of galactosemia, and these conditions are each caused by mutations in a particular gene and affect different enzymes involved in breaking down galactose.The primary risk factor for galactose  Read More

GALT deficiency/Galactosemia is a rare genetic disorder that affects how your body processes or metabolizes a sugar called galactose.Signs and symptoms include:An infant affected with galactosemia, appears normal at birth; however, within a few days or weeks, the infant may lose its appetite and start vomiting excessively.Yellowing of the skin, and mucous membranes, and whites of the eyes (jaun  Read More

A deficiency of the glucocerebrosidase enzyme causes the inherited (genetic) disorder known as Gaucher disease. Due to a lack of the enzyme glucocerebrosidase, Gaucher disease, also known as glucocerebrosidase deficiency, is a genetic disorder that causes aberrant accumulations of the fatty compounds known as glycolipids in various human tissues.There are numerous terms that can be used to describe Gaucher disease.  Read More

Glycogen storage diseases are a group of disorders in which stored glycogen cannot be metabolized into glucose to supply energy and to maintain steady blood glucose levels for the body.Glycogen storage disease I (GSDI) is inherited as an autosomal recessive genetic disorder.The disorder is characterized by the accumulation of excess glycogen and fat in the liver and kidneys, resulting in an enlarged liver  Read More

The deficiency of glycogen breakdown enzyme leads to Glycogen Storage Disease VI. When the glycogen levels are not broken and used in an infant’s body, they accumulate in the liver. This accumulation results in enlarged liver and its improper functioning.Glycogen is the complex sugar in our body stored for energy requirements. The excess and unused glycogen create GSD VI. It detects during infancy or the earl  Read More

Ichthyotic Neutral Lipid Storage Disease (NLSDI) is a rare autosomal genetic disorder caused by excessive accumulation of lipid in body tissues. The human body stores surplus energy, in the form of triacylglycerols, primarily in adipose tissues; However, every tissue stores lipid droplets.The enzyme adipose triglyceride lipase (ATGL) releases triglycerides from the lipid droplets, for energy. However, ATGL is stimulated  Read More

Jaundice is the condition caused by the yellowing of the sclera, mucosa and other organs. It is caused due to the improper working of the liver. Infectious jaundice is caused due to the infections caused in the liver by viruses or bacteria.Hepatitis type A to E viruses are the common causes for this condition. This disease is usually more severe in adults compared to children. Jaundice is also caused due to bacteri  Read More

Methylmalonic acidemia (MMA) is a genetic disorder that makes the body unable to digest certain proteins and fats. The undigested substance releases methylmalonic acid into the bloodstream. These toxin chemicals in the blood can result in some consequential illnesses in the patients. However, this genetic metabolism disorder transfers from parent to infant.Here are some risk factors associated with this inborn error of m  Read More

Pyroglutamicaciduria (PGA) is a rare metabolic disorder that causes high levels of PGA in the blood.Pyroglutamic acid (PA) is an intermediate product of glutamine metabolism.Glutamine is a non-essential amino acid that is abundant in the body and is involved in many metabolic processes.PA is formed from glutamine via transamination reactions involving glutamate dehydrogenase (GDH).PA is e  Read More