Galactose mutarotase deficiency

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Galactose mutarotase deficiency

Synonyms: GALM deficiency | Galactosemia type 4

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.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: // Data version September 2023.

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Galactose mutarotase deficiency?

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Advocacy Organizations

Mississippi Metabolics Foundation

Mississippi Metabolics Foundation (MMF) was founded to raise awareness, educate, and provide support to those living or caring for someone with genetic metabolic disorders/inborn errors of metabolism (IEM).

Clinical Trials

For a list of clinical trials in this disease area, please click here.