Glutathione synthetase deficiency

Glutathione synthetase (GS) deficiency is an inherited disease characterized by anemia with or without neurological problems. It is caused by defects in the enzyme glutathione synthetase, which is important in the production of an antioxidant called glutathione. Glutathione helps to protect cells from damage. Symptoms associated with GS deficiency are due to low levels of glutathione in cells. GS deficiency is also known as 5-oxoprolinuria or pyroglutamic aciduria. View testing options