H00668
H number H00668
Name Anemia due to disorders of glutathione metabolism, including:
Glucose-6-phosphate dehydrogenase deficiency [DS:H01375];
Glutathione peroxidase deficiency;
Gamma-glutamylcysteine synthetase deficiency;
Glutathione synthetase deficiency;
5-oxoprolinase deficiency
Description Anemia due to disorders of glutathione metabolism is a group of red cell disorders caused by inherited abnormality of enzymes of glutathione metabolism. Glucose-6-phosphate dehydrogenase (G6PD) deficiency is the most common enzymatic disorder of red blood cells in humans. It is estimated that about 400 million people are affected by this deficiency. A G6PD-deficient patient lacks the ability to protect red blood cells against oxidative stresses from certain drugs, infections, metabolic conditions, and ingestion of fava beans. GCLC catalyzes the initial and the rate-limiting step of glutathione synthesis. Deficiency of GCLC is extremely rare. GSS deficiency is a more frequent cause of glutathione deficiency.
Category Inherited metabolic disease; Hematologic disease