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Deficiency of UMP synthase in dairy cattle: A model for hereditary orotic aciduria
Author(s) -
Harden K. K.,
Robinson J. L.
Publication year - 1987
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/bf01800062
Subject(s) - orotic acid , adenine phosphoribosyltransferase , phosphoribosyltransferase , enzyme , enzyme deficiency , biology , hypoxanthine guanine phosphoribosyltransferase , biochemistry , endocrinology , medicine , purine , gene , mutant
Summary Deficiency of uridine‐5′‐monophosphate (UMP) synthase in dairy cattle, a condition analogous to human hereditary orotic aciduria, is reviewed with consideration of similarities and differences between the enzyme deficiency in humans and cattle. New findings regarding the bovine condition are reported including presence of the enzyme deficiency in numerous tissues and absence of substantial effects on other aspects of nucleotide metabolism. Specifically, erythrocyte concentration of phosphoribosylpyrophosphate (PRPP) and activities of PRPP synthetase, adenine phosphoribosyltransferase, and hypoxanthine‐guanine phosphoribosyltransferase appear to be normal in cattle heterozygous for UMP synthase deficiency.