Galactose epimerase deficiency
Synonyms: Epimerase deficiency galactosemia | GALE deficiency | GALE-D | Galactosemia type 3 | UDP-galactose-4-epimerase deficiency | Uridine diphosphate galactose-4-epimerase deficiency
A very rare moderate to severe form of galactosemia characterized by moderate to severe signs of impaired galactose metabolism.
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://www.orphadata.org. Data version April 2024
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Galactose epimerase deficiency?
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Clinical Trials
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