Galactose epimerase deficiency

MONDO:0009257

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: GALE deficiency, GALE-D, UDP-galactose-4-epimerase deficiency, epimerase deficiency galactosemia, galactose epimerase deficiency, galactosemia type 3, uridine diphosphate galactose-4-epimerase deficiency, Gale deficiency

0 clinical trials for this condition and its sub-types.

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Sub-types

Erythrocyte galactose epimerase deficiency (0) Generalized galactose epimerase deficiency (0)

Broader categories

Disease (717) Metabolic disease (241) Hereditary disease (188) Eye disorder (104) Inborn errors of metabolism (47) Human disease (15) Galactosemia (5) Carbohydrate metabolism disease (4) Disorder of orbital region (3) Disease of genetic or genomic mechanism (2)

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