Molecular genetic basis of maple syrup urine disease in a family with two defective alleles for branched chain acyltransferase and localization of the gene to human chromosome 1.

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Article

Molecular genetic basis of maple syrup urine disease in a family with two defective alleles for branched chain acyltransferase and localization of the gene to human chromosome 1.

American journal of human genetics - 1 Feb 1991

Herring W J, Litwer S, Weber J L, Danner D J

Abstract excerpt

Maple syrup urine disease in humans results from inherited defects in branched chain alpha-ketoacid dehydrogenase, a mitochondrial multienzyme complex. A variety of genetic changes may produce this phenotype by affecting the function of any of the three complex-specific subunits. The varied clinical expression observed in patients may be partially explained by the defects in the involved subunit. Here we report...

Topics

Acyltransferases
Alleles
Autoradiography
Blotting, Southern
Blotting, Western
Cells, Cultured
Chromosome Mapping
Chromosomes, Human, Pair 1
Humans
Maple Syrup Urine Disease

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Mutation

Nucleic Acids

Pedigree

Polymerase Chain Reaction

Restriction Mapping

Transcription, Genetic

Source

Open in PubMed Open full text

Identifiers

PMID: 1990841
PMCID: PMC1683011

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-1990841-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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