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Article

Molecular genetic characterization of maple syrup urine disease in European families.

Biochemical medicine and metabolic biology - 1 Dec 1993

Peinemann F, Wendel U, Danner D J

Abstract excerpt

Maple syrup urine disease results from defects in the branched chain alpha-ketoacid dehydrogenase complex. Cells from seven German, three Turkish, and two Italian families including five consanguineous matings were analyzed for the causative mutations. Enzyme assays were used to confirm the initial clinical diagnosis of all probands. Immunoblots of mitochondrial proteins from these probands revealed reduced...

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Identifiers

PMID: 8123297
DOI: 10.1006/bmmb.1993.1074

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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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Molecular genetic characterization of maple syrup urine disease in European families.PMID 8123297Read ↗

Molecular diagnosis of maple syrup urine disease: screening and identification of gene mutations in the branched-chain alpha-ketoacid dehydrogenase multienzyme complex.Semantic proximity Read ↗

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Two new mutations in the human E1 beta subunit of branched chain alpha-ketoacid dehydrogenase associated with maple syrup urine disease.Semantic proximity Read ↗

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Mutational spectrum of maple syrup urine disease in Spain.Semantic proximity Read ↗

Maple syrup urine disease: clinical and biochemical significance of gene analysis.Semantic proximity Read ↗

Maple syrup urine disease in Mennonites. Evidence that the Y393N mutation in E1 alpha impedes assembly of the E1 component of branched-chain alpha-keto acid dehydrogenase complex.Semantic proximity Read ↗

Molecular genetics of maple syrup urine disease in the Turkish population.Semantic proximity Read ↗

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Molecular basis of maple syrup urine disease: novel mutations at the E1 alpha locus that impair E1(alpha 2 beta 2) assembly or decrease steady-state E1 alpha mRNA levels of branched-chain alpha-keto acid dehydrogenase complex.Semantic proximity Read ↗

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

Crystal structure of human branched-chain alpha-ketoacid dehydrogenase and the molecular basis of multienzyme complex deficiency in maple syrup urine disease.Semantic proximity Read ↗

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