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Inherited glutathione synthetase deficiency

rare

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.

Identifiers
MONDO:0017909 Orphanet:32
Part of
Defective phagocytic cell engulfmentInherited glutathione metabolism disease
Also known as
5-oxoprolinuria · glutathione synthetase deficiency · GSSD · inborn error of glutathione synthase activity · inborn glutathione synthase activity disorder

Subtypes

All diseases Rare only

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