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Article

Maple syrup urine disease due to a new large deletion at BCKDHA caused by non-homologous recombination.

Journal of inherited metabolic disease - 1 Dec 2008

Quental S, Martins E, Vilarinho L, Amorim A, João Prata M

Abstract excerpt

Maple syrup urine disease (MSUD) is a rare disorder of branched-chain amino acid (BCAA) metabolism caused by the defective function of branched-chain α-ketoacid dehydrogenase complex (BCKD). Many MSUD-causing mutations have already been described in genes that encode the complex (BCKDHA, BCKDHB and DBT), but up to now only four large deletions are known, all located in the DBT gene. In a previous study we...

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Share to 3-Methyl-2-Oxobutanoate Dehydrogenase (Lipoamide)
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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 19085071
DOI: 10.1007/s10545-008-1046-z

Genes

BCKDHA
DBT
BCKDHB

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.

Related research

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Maple syrup urine disease due to a new large deletion at BCKDHA caused by non-homologous recombination.PMID 19085071Read ↗

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Maple syrup urine disease in Brazilian patients: variants and clinical phenotype heterogeneity.Semantic proximity Read ↗

Identification of Four Novel Mutations in Chilean Patients with Various Forms of Maple Syrup Urine Disease Semantic proximity Read ↗

Three Korean patients with maple syrup urine disease: four novel mutations in the BCKDHA gene.Semantic proximity Read ↗

Three novel mutations of the BCKDHA, BCKDHB and DBT genes in Chinese children with maple syrup urine disease.Semantic proximity Read ↗

Maple Syrup Urine Disease in Brazilian Patients: Variants and Clinical Phenotype HeterogeneitySemantic proximity Read ↗

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