Classic galactosemia

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Classic galactosemia

Synonyms: GALT deficiency | Galactose-1-phosphate uridyltransferase deficiency | Galactosemia type 1

A life-threatening metabolic disease with onset in the neonatal period. Infants usually develop feeding difficulties lethargy and severe liver disease.

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 October 2023.

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Classic galactosemia?

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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.