Structure and Function of Low-Density-Lipoprotein Receptors in Epimerase-Deficient Galactosemia

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Abstract
To the Editor: A deficiency of uridine diphosphate galactose 4-epimerase can cause a severe form of galactosemia in humans.1 2 3 The 4-epimerase enzyme normally catalyzes the reversible isomerization of uridine diphosphate galactose and uridine diphosphate glucose, and is essential for both the assimilation of dietary galactose and the de novo synthesis of galactose from glucose. Recent studies of 4-epimerase-deficient hamster cells suggest that uridine diphosphate galactose 4-epimerase may also catalyze the reversible epimerization of uridine diphosphate N-acetylgalactosamine and uridine diphosphate N-acetylglucosamine.4 To determine whether epimerase-deficient patients with galactosemia have defects in this second activity, we measured uridine diphosphate galactose . . .