Orphanet: Classic galactosemia

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Classic galactosemia

Disease definition

A life-threatening metabolic disease with onset in the neonatal period. Infants usually develop feeding difficulties, lethargy, and severe liver disease.


Classification level: Disorder
  • Synonym(s):
    • GALT deficiency
    • Galactose-1-phosphate uridyltransferase deficiency
    • Galactosemia type 1
  • Prevalence: Unknown
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: E74.2
  • OMIM: 230400
  • UMLS: C0268151
  • MeSH: -
  • GARD: -
  • MedDRA: -

Detailed information

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