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1.

Glutathione synthetase deficiency without 5-oxoprolinuria

Two forms of glutathione synthetase deficiency have been described; a mild form, referred to as glutathione synthetase deficiency of erythrocytes, causing hemolytic anemia, and a more severe form causing 5-oxoprolinuria with secondary neurologic involvement (266130). [from OMIM]

MedGen UID:
343541
Concept ID:
C1856399
Disease or Syndrome
2.

Hydroxyacyl glutathione hydrolase deficiency

MedGen UID:
481287
Concept ID:
C3279657
Disease or Syndrome
3.

Glyoxalase deficiency

MedGen UID:
481288
Concept ID:
C3279658
Finding
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