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Article

Lessons from genetic disorders of branched-chain amino acid metabolism.

The Journal of nutrition - 1 Jan 2006

Chuang David T, Chuang Jacinta L, Wynn R Max

Abstract excerpt

Genetic disorders of BCAA metabolism produce amino acidopathies and various forms of organic aciduria with severe clinical consequences. A metabolic block in the oxidative decarboxylation of BCAA caused by mutations in the mitochondrial branched-chain alpha-keto acid dehydrogenase complex (BCKDC) results in Maple Syrup Urine Disease (MSUD) or branched-chain ketoaciduria. There are presently five known clinical...

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Identifiers

PMID: 16365091
DOI: 10.1093/jn/136.1.243S

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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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