UDP-glucose 4-epimerase deficiency
- UDP-glucose 4-epimerase deficiency
- UDP-glu·cose 4-epim·er·ase de·fi·cien·cy (glooґkōs ə-pimґər-ās) a form of galactosemia caused by mutations in the GALE gene (locus: 1p36-p35), which encodes UDP-glucose 4-epimerase. There are two forms: one is benign and characterized by the accumulation of galactose 1-phosphate in erythrocytes and leukocytes, while the other is severe and clinically resembles classic galactosemia, with the addition of hypotonia and sensorineural hearing loss.
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UDP-glucose 4-epimerase — UDP glu·cose 4 epim·er·ase (glooґkōs ə pimґər ās) [EC 5.1.3.2] an enzyme of the isomerase class that catalyzes the interconversion of UDP galactose and UDP glucose in the metabolism of galactose, requiring NAD+ as a cofactor.… … Medical dictionary
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