Disease Directory

Glutathione synthetase deficiency without 5-oxoprolinuria is an inherited metabolic condition that primarily affects the red blood cells and other tis...

Glyceronephosphate O-acyltransferase deficiency is a disorder of plasmalogen biosynthesis that stems from mutations in the GNPAT gene, which plays a k...

Glycine N-methyltransferase deficiency is a very rare metabolic condition characterized by persistently high levels of methionine in the blood. It is...

Glycine encephalopathy is an inborn error of glycine metabolism in which glycine accumulates in body fluids and tissues, including the brain, leading...

Glycogen storage disease I (GSD I), sometimes called von Gierke disease, is an inherited metabolic disorder that interferes with the body’s ability to...

Glycogen storage disease II, also known as Pompe disease or acid maltase deficiency, is a metabolic myopathy characterized by the buildup of glycogen...

Glycogen storage disease III is a metabolic condition characterized by a deficiency of the glycogen debranching enzyme, resulting in muscle weakness a...

Glycogen storage disease IX is a group of inborn errors of glycogen metabolism that stems from deficiencies in phosphorylase kinase activity affecting...

Glycogen storage disease IXa1 is a disorder affecting the liver and blood cells resulting from a mutation in the PHKA2 gene, which leads to deficient...

Glycogen storage disease IXa2 is a form of liver glycogenosis that affects the body’s ability to properly process and store glycogen in the liver. Alt...

Glycogen storage disease IXb is a metabolic disorder affecting the liver and muscle tissues due to a deficiency in the phosphorylase kinase subunit b....

Glycogen storage disease IXc is a liver phosphorylase kinase deficiency caused by pathogenic variants in the PHKG2 gene. It primarily affects children...

Glycogen storage disease IXd is a benign condition affecting muscle metabolism and is characterized by a deficiency in phosphorylase kinase activity....

Glycogen storage disease Ib is a metabolic disorder classified among glycogenoses and is caused by defects in the glucose-6-phosphate transport proces...