OnlineIMD

Galactose epimerase deficiency

  • Synonym(s)
    • Galactosemia type 3
  • Type
    Disease
  • External link(s)
    • Orphanet
    • IEMbase
    • VMH
  • Gene
    • GALE / UDP-galactose-4-epimerase
      • 1p36.11
      • OMIM
      • GnomAD
      • Ensembl
      • HGNC
      • VMH
      • LOVD
  • Gene product
    • UDP-galactose-4-epimerase
  • Pathway
    • Galactose and Fructose metabolism
  • Disease group(s)
    • 3.1        Disorders of galactose and fructose metabolism
  • Child entries
    • Galactose epimerase deficiency, generalized
    • Galactose epimerase deficiency, erythrocyte-restricted