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Uridine nucleotide sugars in erythrocytes of patients with galactokinase deficiency
Author(s) -
Xu Y. K.,
Ng W. G.,
Kaufman F. R.,
Donnell G. N.
Publication year - 1989
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/bf01802040
Subject(s) - galactokinase , galactosemia , galactose , enzyme , uridine diphosphate , nucleotide , biochemistry , uridine , transferase , chemistry , biology , endocrinology , medicine , rna , escherichia coli , gene
Summary The levels of UDPglucose and UDPgalactose (UDPGal) have been measured in erythrocytes of seven patients with galactokinase deficiency. Normal levels of UDPGal were found in all patients with galactokinase deficiency (McKusick 23020). This is in contrast with reduced values of UDPGal found in patients with classical galactosaemia who have complete absence of galactose‐1‐phosphate uridyl transferase activity. It was demonstrated that patients with galactokinase deficiency had an incomplete enzyme block in erythrocytes by direct enzyme assay, by 14 CO 2 production from [1‐ 14 C]galactose, and by the appearance of labelled intermediates, notably galactose‐1‐phosphate and UDPhexose.