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Further observations in a case of uridine diphosphate galactose‐4‐epimerase deficiency with a severe clinical presentation
Author(s) -
Henderson M. J.,
Holton J. B.,
MacFaul R.
Publication year - 1983
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1007/bf02391187
Subject(s) - uridine diphosphate , galactose , uridine diphosphate glucose , nucleotide salvage , uridine , galactosemia , biochemistry , chemistry , enzyme , rna , nucleotide , gene
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.