Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

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 a...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to 3-Methyl-2-Oxobutanoate Dehydrogenase (Lipoamide)
Share to Amino Acids, Branched-Chain
Share to Introns

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Maple Syrup Urine Disease

Share to Nucleotide Motifs

Share to Recombination, Genetic

Share to Sequence Deletion

Share to Up-Regulation

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 2 Sept 2026. Prepared record publication-19085071-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

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

Identification of the first Alu-mediated gross deletion involving the BCKDHA gene in a compound heterozygous patient with maple syrup urine disease.Semantic proximity Read ↗

Identification of six novel mutations in Iranian patients with maple syrup urine disease and their in silico analysis.Semantic proximity Read ↗

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 ↗

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

Genetic analysis by targeted next-generation sequencing and novel variation identification of maple syrup urine diseaseSemantic proximity Read ↗

Identification of mutations, genotype-phenotype correlation and prenatal diagnosis of maple syrup urine disease in Indian patients.Semantic proximity Read ↗

Molecular characterization of maple syrup urine disease patients from Tunisia.Semantic proximity Read ↗

Clinical characteristics and mutation analysis of five Chinese patients with maple syrup urine disease.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.