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Article

Description of the mutations in 15 subjects with variant forms of maple syrup urine disease.

Journal of inherited metabolic disease - 1 Nov 2007

Flaschker N, Feyen O, Fend S, Simon E, Schadewaldt P, Wendel U

Abstract excerpt

BACKGROUND: In maple syrup urine disease (MSUD), disease-causing mutations can affect the BCKDHA, BCKDHB or DBT genes encoding for the E1 alpha, E1 beta and E2 subunits of the multienzyme branched-chain 2-keto acid dehydrogenase (BCKD) complex. AIM: The aim of this study was to screen DNA samples of 15 subjects with distinct well-characterized variant MSUD phenotypes for mutations in the three genes in order to...

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Source

Identifiers

PMID: 17922217
DOI: 10.1007/s10545-007-0579-x

Genes

BCKDHB
DBT
BCKDHA

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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