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Galactose epimerase deficiency

Disease definition

Galactose epimerase deficiency is a very rare, moderate to severe form of galactosemia (see this term) characterized by moderate to severe signs of impaired galactose metabolism.

ORPHA:79238

  • Synonym(s):
    • Epimerase deficiency galactosemia
    • GALE deficiency
    • GALE-D
    • Galactosemia type 3
    • UDP-galactose-4-epimerase deficiency
    • Uridine diphosphate galactose-4-epimerase deficiency
  • Prevalence: Unknown
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: E74.2
  • OMIM: 230350
  • UMLS: C0751161
  • MeSH: -
  • GARD: 5392
  • MedDRA: -

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