Inherited glutathione synthetase deficiency
Inherited glutathione synthetase deficiency
Definition
Glutathione synthetase deficiency is characterized by hemolytic anemia, associated with metabolic acidosis and 5-oxoprolinuria in moderate forms, and with progressive neurological symptoms and recurrent bacterial infections in the most severe forms.
Also known as 5-oxoprolinuria, glutathione synthetase deficiency, GSSD, inborn error of glutathione synthase activity, inborn glutathione synthase activity disorder, inherited glutathione synthetase deficiency, pyroglutamic aciduria, pyroglutamicaciduria, rare inborn error of glutathione synthase activity — per MONDO