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Maple Syrup Urine Disease (MSUD) is an inborn error of metabolism caused by a deficiency of branched-chain keto acid dehydrogenase. MSUD has several clinical phenotypes depending on the degree of enzyme deficiency. Current treatments are not satisfactory and require new approaches to combat this disease. A major hurdle in developing new treatments has been the lack of a suitable animal model.
Pubmed ID: 16579849
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laboratory mouse with name 129/SvEv from MGI.
View all literature mentionsMus musculus with name C57BL/6J from IMSR.
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