Inherited Glutathione Synthetase Deficiency
Autoszomális recesszív
An inherited shortage of glutathione caused by changes in GSS, ranging from mild red blood cell breakdown to severe forms with acid build-up and 5-oxoprolinuria.
Mit változtat a diagnózis
Knowing about it supports avoiding medicines and foods that trigger red cell breakdown, and antioxidant treatment in severe forms.
Vizsgált gének
Más néven
5-oxoprolinuria; glutathione synthetase deficiency; GSSD; inborn error of glutathione synthase activity; inborn glutathione synthase activity disorder; oxoprolinase deficiency; pyroglutamic aciduria; pyroglutamicaciduria; rare inborn error of glutathione synthase activity
Szintén szereplő specifikus formák
2 kapcsolódó altípust tartalmaz ↓Altípusok elrejtése ↑
- glutathione synthetase deficiency with 5-oxoprolinuria
- glutathione synthetase deficiency without 5-oxoprolinuria
