Title : A Case Study of Monozygotic Twins Apparently Homozygous for a Novel Variant of UDP-Galactose 4'-epimerase (GALE) : A Complex Case of Variant GALE.

Pub. Date : 2013

PMID : 23430501






2 Functional Relationships(s)
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1 Epimerase deficiency galactosemia is an autosomal recessive disorder that results from partial impairment of UDP-galactose 4"-epimerase (GALE), the third enzyme in the Leloir pathway of galactose metabolism. Galactose UDP-galactose-4-epimerase Homo sapiens
2 Expression studies of R220W-hGALE in a null-background strain of Saccharomyces cerevisiae demonstrated a very limited impairment of V (max) for UDP-galactose (UDP-Gal) and K (m) for UDP-N-acetylgalactosamine (UDP-GalNAc), but a galactose challenge in vivo failed to uncover any evidence of impaired Leloir function. Galactose UDP-galactose-4-epimerase Homo sapiens