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Further observations in a case of uridine diphosphate galactose-4-epimerase deficiency with a severe clinical presentation

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Journal of Inherited Metabolic Disease

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 (McK usick 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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Authors and Affiliations

  1. Department of Clinical Chemistry, Southmead Hospital, BS10 5NB, Bristol, UK

    M. J. Henderson & J. B. Holton

  2. Department of Paediatrics, Pinderfields Hospital, WF1 4DG, Wakefield, UK

    R. MacFaul

Authors
  1. M. J. Henderson
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  2. J. B. Holton
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  3. R. MacFaul
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Henderson, M.J., Holton, J.B. & MacFaul, R. Further observations in a case of uridine diphosphate galactose-4-epimerase deficiency with a severe clinical presentation. J Inherit Metab Dis 6, 17–20 (1983). https://doi.org/10.1007/BF02391187

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  • DOI: https://doi.org/10.1007/BF02391187

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