Glutathione synthetase deficiency

Orpha code: 32OMIM code: 266130

Definition

A rare disorder characterised 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.

Disease data
Classification

Disease

Synonyms
Pyroglutamicaciduria
Kwasica piroglutaminowa
ORPHA code
32
OMIM code
266130
ICD10 code
D55.1
ICD11 code
3A10.0Y

No additional description.

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