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Galactose mutarotase deficiency

Disease definition

A rare disorder of galactose metabolism characterized by persistent congenital galactosemia due to deficiency of the enzyme galactose mutarotase. Patients may present bilateral cataract, while gastrointestinal symptoms or severe liver dysfunction are absent. The natural history of the disease is unknown. Severe complications, such as neurological symptoms, have not been reported under early treatment with a galactose-restricted diet.

ORPHA:570422

Classification level: Disorder
  • Synonym(s):
    • GALM deficiency
    • Galactosemia type 4
  • Prevalence: Unknown
  • Inheritance: -
  • Age of onset: Neonatal, Infancy
  • ICD-10: E88.8
  • ICD-11: 5C51.4Y
  • OMIM: 618881
  • UMLS: C5394377
  • MeSH: -
  • GARD: -
  • MedDRA: -

  A summary on this disease is available in Español (2020) Français (2020) Nederlands (2020)

Additional information

Further information on this disease

Patient-centred resources for this disease

Research activities on this disease

Specialised Social Services

Newborn screening

The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.