ArticleJournal of inherited metabolic disease2002
Maple syrup urine disease: mutation analysis in Turkish patients.
Article in Journal of inherited metabolic disease, 2002. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers, 1 of them a synthesis that pooled it.
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Who cites it
8 citing papers in PubMed, 1 synthesis or guideline pooled it, 25 citations in OpenAlex.
- Spectrum of genetic variants associated with maple syrup urine disease in the Middle East, North Africa, and Türkiye (MENAT): a systematic review.BMC medical genomics · 2025Pooled it
- Inherited Metabolic Diseases from Past to Present: A Bibliometric Analysis (1968-2023).Children (Basel, Switzerland) · 2023Article
- Oral health status of children and young adults with maple syrup urine disease in Turkey.BMC oral health · 2021Article
- Maple syrup urine disease in Brazilian patients: variants and clinical phenotype heterogeneity.Orphanet journal of rare diseases · 2020Article
- Identification of eight novel mutations in 11 Chinese patients with maple syrup urine disease.World journal of pediatrics : WJP · 2020Article
- Predictors of acute metabolic decompensation in children with maple syrup urine disease at the emergency department.European journal of pediatrics · 2020Article
- Identification of three novel mutations by studying the molecular genetics of Maple Syrup Urine Disease (MSUD) in the Lebanese population.Molecular genetics and metabolism reports · 2014Article
- Functional characterization of the novel intronic nucleotide change c.288+9C>T within the BCKDHA gene: understanding a variant presentation of maple syrup urine disease.Journal of inherited metabolic disease · 2010Article
Corrections and comments
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Authors and funding
10 authors at 3 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Maple syrup urine disease (MSUD), the most frequently occurring organic acidaemia in Turkey, is caused by a deficiency of the activity of branched-chain keto acid dehydrogenase enzyme (BCKAD) complex. Mutation analysis of the E1alpha, E1beta, and E2 genes of the BCKAD complex in 12 Turkish MSUD patients yielded three disease-specific mutations and a polymorphism in the E1alpha gene, none in the E1beta gene and one mutation in the E2 gene. Among them, three missense mutations (Q80E, C213Y, T106M) and the F280F polymorphism occurring in the E1alpha gene and the splice site mutation (IVS3 - 1G>A) in the E2 gene were novel. Three of the missense mutations and the splicing mutation occurred homozygously and caused classical MSUD. One patient carried the splicing mutation homozygously and the T106M mutation in the heterozygous state; this patient is the first case having simultaneously two different mutations in two different genes in the BCKAD complex. IVS3 - IG>A splicing mutation detected on the E2 gene causes deletion of the first 14 bp of exon 3 in the mutant mRNA extending between 190 and 204 nt. The deletion spans the cleavage point between mitochondrial targeting and lipoyl-bearing site of the E2 protein.
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