Gene analysis of Mennonite maple syrup urine disease kindred using primer-specified restriction map modification.

doi:10.1007/BF01799628

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Article

Gene analysis of Mennonite maple syrup urine disease kindred using primer-specified restriction map modification.

Journal of inherited metabolic disease - 1 Jan 1992

Mitsubuchi H, Matsuda I, Nobukuni Y, Heidenreich R, Indo Y, Endo F, Mallee J, Segal S

Abstract excerpt

Maple syrup urine disease (MSUD) is an autosomal recessive inherited disease due to a deficiency of any of the subunits, E1 alpha, E1 beta or E2, of the branched-chain alpha-ketoacid dehydrogenase complex (BCKDH). A large Mennonite kindred of MSUD has been studied in Pennsylvania, USA. In the pre...

Topics

3-Methyl-2-Oxobutanoate Dehydrogenase (Lipoamide)
Base Sequence
DNA
Deoxyribonucleases, Type II Site-Specific
Humans
Ketone Oxidoreductases
Maple Syrup Urine Disease
Molecular Sequence Data
Multienzyme Complexes
Mutation
Pedigree
Polymerase Chain Reaction
Polymorphism, Restriction Fragment Length

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Open in PubMed

Identifiers

PMID: 1356170
DOI: 10.1007/BF01799628

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-1356170-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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