Orphanet: Galactokinase deficiency Galactosemia type 2

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Galactokinase deficiency

Disease definition

A rare mild form of galactosemia characterized by early onset of cataract and an absence of the usual signs of classic galactosemia, i.e. feeding difficulties, poor weight gain and growth, lethargy, and jaundice.


Classification level: Disorder
  • Synonym(s):
    • GALK deficiency
    • GALK-D
    • Galactokinase deficiency galactosemia
    • Galactosemia type 2
  • Prevalence: Unknown
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: E74.2
  • OMIM: 230200
  • UMLS: C0268155  C0751158
  • MeSH: C535999
  • GARD: 2422
  • MedDRA: -

Detailed information

Article for general public


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