Maple Syrup Urine Disease in a Central Indiana Hereford Herd

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...

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Main Authors: Mark E. Robarge, Jonathan E. Beever, Stephen D. Lenz, Christopher J. Lynch, William L. Wigle
Format: Article
Language:English
Published: Wiley 2015-01-01
Series:Case Reports in Veterinary Medicine
Online Access:http://dx.doi.org/10.1155/2015/204037
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author Mark E. Robarge
Jonathan E. Beever
Stephen D. Lenz
Christopher J. Lynch
William L. Wigle
author_facet Mark E. Robarge
Jonathan E. Beever
Stephen D. Lenz
Christopher J. Lynch
William L. Wigle
author_sort Mark E. Robarge
collection DOAJ
description 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.
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spelling doaj-art-e215b225b8ae4ce8ae88bc1efe0edacd2025-08-20T03:20:59ZengWileyCase Reports in Veterinary Medicine2090-70012090-701X2015-01-01201510.1155/2015/204037204037Maple Syrup Urine Disease in a Central Indiana Hereford HerdMark E. Robarge0Jonathan E. Beever1Stephen D. Lenz2Christopher J. Lynch3William L. Wigle4Department of Comparative Pathobiology and Indiana Animal Disease Diagnostic Laboratory, Purdue University, 406 S. University Street, West Lafayette, IN 47907, USADepartment of Animal Sciences, University of Illinois, 1207 West Gregory Drive, Urbana, IL 61801, USADepartment of Comparative Pathobiology and Indiana Animal Disease Diagnostic Laboratory, Purdue University, 406 S. University Street, West Lafayette, IN 47907, USADepartment of Cellular and Molecular Physiology, Penn State University College of Medicine, 500 University Drive, Hershey, PA 17033, USADepartment of Comparative Pathobiology and Indiana Animal Disease Diagnostic Laboratory, Purdue University, 406 S. University Street, West Lafayette, IN 47907, USAMaple 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.http://dx.doi.org/10.1155/2015/204037
spellingShingle Mark E. Robarge
Jonathan E. Beever
Stephen D. Lenz
Christopher J. Lynch
William L. Wigle
Maple Syrup Urine Disease in a Central Indiana Hereford Herd
Case Reports in Veterinary Medicine
title Maple Syrup Urine Disease in a Central Indiana Hereford Herd
title_full Maple Syrup Urine Disease in a Central Indiana Hereford Herd
title_fullStr Maple Syrup Urine Disease in a Central Indiana Hereford Herd
title_full_unstemmed Maple Syrup Urine Disease in a Central Indiana Hereford Herd
title_short Maple Syrup Urine Disease in a Central Indiana Hereford Herd
title_sort maple syrup urine disease in a central indiana hereford herd
url http://dx.doi.org/10.1155/2015/204037
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