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Article

ENU mutagenesis identifies mice with mitochondrial branched-chain aminotransferase deficiency resembling human maple syrup urine disease.

The Journal of clinical investigation - 1 Feb 2004

Wu Jer-Yuarn, Kao Hsiao-Jung, Li Sing-Chung, Stevens Robert, Hillman Steven, Millington David, Chen Yuan-Tsong

Abstract excerpt

Tandem mass spectrometry was applied to detect derangements in the pathways of amino acid and fatty acid metabolism in N-ethyl-N-nitrosourea-treated (ENU-treated) mice. We identified mice with marked elevation of blood branched-chain amino acids (BCAAs), ketoaciduria, and clinical features resembling human maple syrup urine disease (MSUD), a severe genetic metabolic disorder caused by the deficiency of...

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Identifiers

PMID: 14755340
DOI: 10.1172/JCI19574
PMCID: PMC324540

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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