title: Deficiency of UMP synthase in dairy cattle: a model for hereditary orotic aciduria.
abstract: 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.
mesh_terms: D000228:Adenine Phosphoribosyltransferase / Q000097:blood; D000818:Animals; D002262:Carboxy-Lyases / Q000172:deficiency*; D002417:Cattle; D004195:Disease Models, Animal; D004912:Erythrocytes / Q000201:enzymology; D005260:Female; D006801:Humans; D007041:Hypoxanthine Phosphoribosyltransferase / Q000097:blood; D009097:Multienzyme Complexes / Q000172:deficiency*; D009962:Orotate Phosphoribosyltransferase / Q000172:deficiency*; D009963:Orotic Acid / Q000652:urine*; D009964:Orotidine-5'-Phosphate Decarboxylase / Q000172:deficiency*; D010428:Pentosephosphates / Q000097:blood; D010430:Pentosyltransferases / Q000172:deficiency*; D010754:Phosphoribosyl Pyrophosphate; D012268:Ribose-Phosphate Pyrophosphokinase / Q000097:blood
chemical_list: D009097:Multienzyme Complexes; D010428:Pentosephosphates; D009963:Orotic Acid; C027157:uridine 5'-monophosphate synthase; D010754:Phosphoribosyl Pyrophosphate; D010430:Pentosyltransferases; D009962:Orotate Phosphoribosyltransferase; D000228:Adenine Phosphoribosyltransferase; D007041:Hypoxanthine Phosphoribosyltransferase; D012268:Ribose-Phosphate Pyrophosphokinase; D002262:Carboxy-Lyases; D009964:Orotidine-5'-Phosphate Decarboxylase