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Case Reports in Veterinary Medicine - Volume 2015 2015, Article ID 204037, 4 pages -

Case Report

Department of Comparative Pathobiology and Indiana Animal Disease Diagnostic Laboratory, Purdue University, 406 S. University Street, West Lafayette, IN 47907, USA

Department of Animal Sciences, University of Illinois, 1207 West Gregory Drive, Urbana, IL 61801, USA

Department of Cellular and Molecular Physiology, Penn State University College of Medicine, 500 University Drive, Hershey, PA 17033, USA

Received 18 May 2015; Accepted 14 July 2015

Academic Editor: Renato L. Santos

Copyright © 2015 Mark E. Robarge et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.


Maple syrup urine disease MSUD and further cases were identified in herd mates of a small Hereford herd in Indiana based on history, clinical signs, microscopic lesions, and biochemical and genetic testing. This aminoacidopathy has been diagnosed in polled Shorthorn, polled Hereford, and Hereford cattle in Australia, Uruguay, Argentina, and Canada and is the result of a mutation of the branched-chain alpha-ketoacid dehydrogenase complex. The Indiana index calf case was confirmed by showing the classic accumulation of ketoacids in liver that results from a defect in the E1-alpha subunit 248 C-T haplotype in the mitochondrial branched-chain α-ketoacid dehydrogenase complex. The presence of the mutation was confirmed in the index case, the dam, and four related herd mates that represent the first confirmed cases of bovine MSUD mutation in United States cattle.

Autor: Mark E. Robarge, Jonathan E. Beever, Stephen D. Lenz, Christopher J. Lynch, and William L. Wigle



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