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Article

Identification of twelve novel mutations in patients with classic and variant forms of maple syrup urine disease.

Human mutation - 1 Nov 2003

Henneke Marco, Flaschker Nadine, Helbling Christoph, Müller Martina, Schadewaldt Peter, Gärtner Jutta, Wendel Udo

Abstract excerpt

Maple syrup urine disease (MSUD) is an autosomal recessive metabolic disorder of panethnic distribution caused by a deficiency of the activity of branched-chain alpha-ketoacid dehydrogenase (BCKD) complex. Mutations in the human BCKD genes E1alpha (BCKDHA), E1beta (BCKDHB) and E2 (DBT) are known to result in MSUD, referred to as type Ia, Ib and II mutations respectively. In this study 16 patients with the classic...

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Source

Identifiers

PMID: 14517957
DOI: 10.1002/humu.9187

Genes

BCKDHA
BCKDHB
DBT

Provenance

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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Identification of twelve novel mutations in patients with classic and variant forms of maple syrup urine disease.PMID 14517957Read ↗

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