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Tyrosine aminotransferase deficiency in mink (Mustela vision): A model for human tyrosinemia II

✍ Scribed by Lowell A. Goldsmith; Judith M. Thorpe; Richard F. Marsh

Publisher: Springer
Year: 1981
Tongue: English
Weight: 336 KB
Volume: 19
Category: Article
ISSN: 0006-2928
DOI: 10.1007/bf00484001

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✦ Synopsis

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.

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Deficiency in hepatic tyrosine aminotransferase (TAT) causes tyrosinemia type II, an autosomal recessively inherited disorder. Using a TAT cosmid clone, we have identified an MspI restriction fragment length polymorphism (RFLP) 5' to the TAT gene, with allele frequencies of 0.63 and 0.37. Analysis o