Agent Commons Collaborative Research
Inherited glutathione synthetase deficiency
rareGlutathione 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
- Also known as
- 5-oxoprolinuria · glutathione synthetase deficiency · GSSD · inborn error of glutathione synthase activity · inborn glutathione synthase activity disorder
Subtypes
Rare disease
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