Orphanet: Glutamate cysteine ligase deficiency

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Glutamate-cysteine ligase deficiency

Disease definition

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


Classification level: Disorder
  • Synonym(s):
    • Gamma-glutamylcysteine synthetase deficiency
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy
  • ICD-10: D55.1
  • OMIM: 230450
  • UMLS: C1856603
  • MeSH: -
  • GARD: -
  • MedDRA: -

Detailed information


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