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

J Inherit Metab Dis. 1983;6(1):17-20. doi: 10.1007/BF02391187.

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.

Publication types

  • Case Reports

MeSH terms

  • Biotransformation
  • Carbohydrate Epimerases / deficiency*
  • Dietary Carbohydrates / metabolism
  • Dietary Carbohydrates / pharmacology
  • Erythrocytes / metabolism
  • Female
  • Galactose / metabolism
  • Galactose / pharmacology
  • Galactosemias / diagnosis*
  • Galactosephosphates / analysis
  • Humans
  • Infant
  • Infant, Newborn
  • UDPglucose 4-Epimerase / analysis
  • UDPglucose 4-Epimerase / deficiency*
  • Uridine Diphosphate Galactose / analysis

Substances

  • Dietary Carbohydrates
  • Galactosephosphates
  • galactose-1-phosphate
  • Uridine Diphosphate Galactose
  • Carbohydrate Epimerases
  • UDPglucose 4-Epimerase
  • Galactose