/inherited glutathione synthetase deficiency

inherited glutathione synthetase deficiency

Rare Disease

MONDO:0017909

Also Known As

5-oxoprolinuriaGSSDglutathione synthetase deficiencyinborn error of glutathione synthase activityinborn glutathione synthase activity disorderinherited glutathione synthetase deficiencypyroglutamic aciduriapyroglutamicaciduriarare inborn error of glutathione synthase activityoxoprolinase 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.