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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
- OMIM: 618881
- UMLS: -
- MeSH: -
- GARD: -
- MedDRA: -
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