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Article

Maple syrup urine disease: identification and carrier-frequency determination of a novel founder mutation in the Ashkenazi Jewish population.

American journal of human genetics - 1 Oct 2001

Edelmann L, Wasserstein M P, Kornreich R, Sansaricq C, Snyderman S E, Diaz G A

Abstract excerpt

Maple syrup urine disease (MSUD) is a rare, autosomal recessive disorder of branched-chain amino acid metabolism. We noted that a large proportion (10 of 34) of families with MSUD that were followed in our clinic were of Ashkenazi Jewish (AJ) descent, leading us to search for a common mutation within this group. On the basis of genotyping data suggestive of a conserved haplotype at tightly linked markers on...

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Identifiers

PMID: 11509994
DOI: 10.1086/323677
PMCID: PMC1226071

Genes

BCKDHB

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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