" /> Uridine diphosphate galactose-4-epimerase deficiency - CISMeF





Preferred Label : Uridine diphosphate galactose-4-epimerase deficiency;

ICD-11 definition : Galactose epimerase deficiency is a very rare, moderate to severe form of galactosemia characterized by moderate to severe signs of impaired galactose metabolism.;

ICD-11 synonym : UDP-galactose-4-epimerase deficiency;

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Galactose epimerase deficiency is a very rare, moderate to severe form of galactosemia characterized by moderate to severe signs of impaired galactose metabolism.

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27/07/2025


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