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Article

Different gene preferences of maple syrup urine disease in the aboriginal tribes of Taiwan.

Pediatrics and neonatology - 1 Jun 2014

Hou Jia-Woei, Hwang Tsann-Long

Abstract excerpt

BACKGROUND: Maple syrup urine disease (MSUD) is a rare inborn error of metabolism caused by a deficiency of the branched-chain α-ketoacid dehydrogenase (BCKD) complex. Mutations in any one of the three different genes encoding for the BCKD components, namely, BCKDHA, BCKDHB, and DBT, may be responsible for this disease. In Taiwan, few MSUD cases were diagnosed clinically, and most of these patients are from...

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Source

Identifiers

PMID: 24268812
DOI: 10.1016/j.pedneo.2013.09.009

Genes

DBT
BCKDHA
BCKDHB

Variants

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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