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Glutathione synthetase deficiency

Disease 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.


Classification level: Disorder
  • Synonym(s):
    • Pyroglutamicaciduria
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Neonatal
  • ICD-10: D55.1
  • OMIM: 231900  266130
  • UMLS: C0398746  C1291643
  • MeSH: C536835
  • GARD: 10047
  • MedDRA: -

Detailed information


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