Glutamate-cysteine ligase deficiency

Orpha code: 33574OMIM code: 230450

Definition

A disorder that is principally characterized by hemolytic anemia, (usually rather mild), however, the presence of neurological symptoms has also been reported.

Disease data
Classification

Disease

Synonyms
Gamma-glutamylcysteine synthetase deficiency
Nidobór ligazy glutaminy i cysteiny
ORPHA code
33574
OMIM code
230450
ICD10 code
D55.1
ICD11 code
-

No additional description.

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