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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 initi...

Topics

3-Methyl-2-Oxobutanoate Dehydrogenase (Lipoamide)
Base Sequence
Europe
Humans
Ketone Oxidoreductases
Maple Syrup Urine Disease
Mitochondria
Molecular Sequence Data
Multienzyme Complexes
Mutation
RNA, Messenger

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 8123297
DOI: 10.1006/bmmb.1993.1074

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-8123297-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 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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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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