title: Inherited enzyme deficiencies in livestock.
abstract: The biochemical basis of over 300 inherited diseases has been defined in humans, and the majority involve abnormalities in enzymes. The rate of discovery of new defects is accelerating as biochemical and molecular technologies improve. The majority of inherited defects are expressed before puberty and approximately 25% are apparent at birth. Genomes of other mammals are similar and have been subjected to similar mutation pressures; therefore, it is probable that a range of inherited defects exists in livestock similar to that in humans. Because modern livestock populations have emerged from small population bases, the range of genetic aberrations, within breeds, will be less than in the general human population. Even if there is a 10-fold difference, however, there will be a bewildering array of defects possible in each breed. Because the level of inbreeding within livestock populations is greater than in the general human population, on the other hand, the prevalence of specific defects will be higher. It is probable that a high prevalence of a lethal recessive defect could occur within a particular livestock population and escape recognition. First, livestock producers accept a relatively high neonatal mortality rate without seeking a diagnosis. Second, few if any veterinary diagnostic facilities possess either the instrumentation or the analytic skills essential for investigating the vast range of potential inborn errors of metabolism. Third, national selection programs--e.g., those employed within the dairy industry--tend to use production data from adult progeny in selection. Consequently, the programs would not detect differences in fetal or neonatal mortality rates among descendants of specific sires until a deleterious defect had been widely disseminated.(ABSTRACT TRUNCATED AT 250 WORDS)
authors.affiliation: Elizabeth Macarthur Agricultural Institute, Camden, New South Wales, Australia.
authors.forename: P J
authors.initials: PJ
authors.lastname: Healy
authors.forename: J A
authors.initials: JA
authors.lastname: Dennis
mesh_terms: D000818:Animals; D000829:Animals, Domestic; D001124:Argininosuccinate Synthase / Q000172:deficiency; D002417:Cattle; D002418:Cattle Diseases / Q000201:enzymology / Q000235:genetics; D002956:Citrulline / Q000097:blood; D004798:Enzymes / Q000172:deficiency*; D005173:Factor XI Deficiency / Q000201:enzymology / Q000235:genetics / Q000662:veterinary; D008375:Maple Syrup Urine Disease / Q000201:enzymology / Q000235:genetics / Q000662:veterinary; D008661:Metabolism, Inborn Errors / Q000201:enzymology / Q000235:genetics / Q000662:veterinary*; D009097:Multienzyme Complexes / Q000172:deficiency; D009962:Orotate Phosphoribosyltransferase / Q000172:deficiency; D009964:Orotidine-5'-Phosphate Decarboxylase / Q000172:deficiency; D011164:Porphyrias / Q000201:enzymology / Q000235:genetics / Q000662:veterinary
chemical_list: D004798:Enzymes; D009097:Multienzyme Complexes; D002956:Citrulline; C027157:uridine 5'-monophosphate synthase; D009962:Orotate Phosphoribosyltransferase; D009964:Orotidine-5'-Phosphate Decarboxylase; D001124:Argininosuccinate Synthase