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Galactosemia

Disease definition

Galactosemia is a group of rare genetic metabolic disorders characterized by impaired galactose metabolism resulting in a range of variable manifestations encompassing a severe, life-threatening disease (classic galactosemia), a rare mild form (galactokinase deficiency) causing cataract, and a very rare form with variable severity (galactose epimerase deficiency) resembling classic galactosemia in the severe form (see these terms).

ORPHA:352

  • Synonym(s): -
  • Prevalence: Unknown
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy, Neonatal, Childhood
  • ICD-10: E74.2
  • OMIM: 230200  230350  230400
  • UMLS: C0016952
  • MeSH: D005693
  • GARD: 2424
  • MedDRA: 10017604

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