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Three Korean patients with maple syrup urine disease: four novel mutations in the BCKDHA gene.

Annals of clinical and laboratory science - 1 Jan 2011

Park Hyung-Doo, Lee Dong Hwan, Hong Yong Hee, Kang Dong Hee, Lee You Kyoung, Song Junghan, Lee Soo-Youn, Kim Jong-Won, Ki Chang-Seok, Lee Yong-Wha

Abstract excerpt

Maple syrup urine disease (MSUD) is a rare, autosomal recessive disorder of branched-chain amino acid (BCAA) metabolism caused by dysfunction of the multienzyme branched-chain alpha-ketoacid dehydrogenase (BCKDH) complex. Although a few cases of MSUD have been reported in the Korean population, the genetic background of MSUD is not well understood. In this study, we investigated three newborn males who were...

Topics

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3-Methyl-2-Oxobutanoate Dehydrogenase (Lipoamide)
Acyltransferases
Amino Acids, Branched-Chain
Homozygote
Infant, Newborn

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Ketone Oxidoreductases

Maple Syrup Urine Disease

Republic of Korea

Source

Identifiers

PMID: 21844576

Genes

BCKDHA
BCKDHB
DBT

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

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