Galactose epimerase deficiency

Definition

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

Also known as epimerase deficiency galactosemia, galactose epimerase deficiency, galactosemia type 3, GALE deficiency, GALE-D, UDP-galactose-4-epimerase deficiency, uridine diphosphate galactose-4-epimerase deficiency — per MONDO

Also identified as

• DOID 0111458 per MONDO
• OMIM 230350 per MONDO
• Orphanet 79238 per MONDO
• SCTID 8849004 per MONDO
• UMLS C0751161 per MONDO