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  • Title: Further observations in a case of uridine diphosphate galactose-4-epimerase deficiency with a severe clinical presentation.
    Author: Henderson MJ, Holton JB, MacFaul R.
    Journal: J Inherit Metab Dis; 1983; 6(1):17-20. PubMed ID: 6408303.
    Abstract:
    The red-cell concentrations of galactose-1-phosphate and uridine diphosphate galactose have been studied in relation to dietary galactose in a case of uridine diphosphate galactose-4-epimerase deficiency (McKusick 23035). Uridine diphosphate galactose accumulates rapidly in response to very small amounts of galactose but the concentration of galactose-1-phosphate increases proportionately to galactose intake. The significance of the observation is discussed with respect to the pathogenesis and treatment of the disease.
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