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Galactose epimerase deficiency
rareGalactose epimerase deficiency is a very rare, moderate to severe form of galactosemia characterized by moderate to severe signs of impaired galactose metabolism.
- Identifiers
- MONDO:0009257 OMIM:230350Orphanet:79238
- Causal genes
- GALE
- Part of
- Galactosemia
- Also known as
- epimerase deficiency galactosemia · galactosemia type 3 · GALE deficiency · GALE-D · UDP-galactose-4-epimerase deficiency
Subtypes
Rare disease
Projects
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