title: Tyrosine aminotransferase deficiency in mink (Mustela vision): a model for human tyrosinemia II.
abstract: Mink pseudodistemper, a recessive disease associated with high blood tyrosine levels, is an animal analogue of the human inborn error of metabolism, tyrosinemia II. Affected mink and man have eye and skin lesions. Affected mink have no hepatic tyrosine aminotransferase (TAT) activity, as measured immunologically and biochemically. Hepatic mitochondrial aspartate aminotransferase is increased to 188% of control. This new genetic animal model of TAT deficiency should allow new studies of tyrosine metabolism.
mesh_terms: D000592:Amino Acid Metabolism, Inborn Errors / Q000235:genetics / Q000662:veterinary*; D000820:Animal Diseases / Q000235:genetics*; D000818:Animals; D001219:Aspartate Aminotransferases / Q000378:metabolism; D004195:Disease Models, Animal; D006801:Humans; D005779:Immunodiffusion; D008907:Mink / Q000235:genetics*; D008930:Mitochondria, Liver / Q000201:enzymology*; D051381:Rats; D013045:Species Specificity; D014443:Tyrosine / Q000378:metabolism*; D014444:Tyrosine Transaminase / Q000172:deficiency*
chemical_list: D014443:Tyrosine; D001219:Aspartate Aminotransferases; D014444:Tyrosine Transaminase