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Clinical characteristics and mutation analysis of five Chinese patients with maple syrup urine disease.

Metabolic brain disease - 1 Jun 2018

Li Xiaomei, Yang Yali, Gao Qing, Gao Min, Lv Yvqiang, Dong Rui, Liu Yi, Zhang Kaihui, Gai Zhongtao

Abstract excerpt

Maple syrup urine disease (MSUD) is an autosomal recessive disorder affecting branched-chain amino acids (BCAAs) metabolism and caused by a defect in the thiamine-dependent enzyme branched chain α-ketoacid dehydrogenase (BCKD) with subsequent accumulation of BCAAs and corresponding branched-chain keto acids (BCKAs) metabolites. Presently, at least 4 genes of BCKDHA, BCKDHB, DLD and DBT have been reported to cause...

Topics

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3-Methyl-2-Oxobutanoate Dehydrogenase (Lipoamide)
Amino Acids, Branched-Chain
Asian People
DNA Mutational Analysis
DLD gene

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Maple Syrup Urine Disease

Pathology, Molecular

Source

Identifiers

PMID: 29307017
DOI: 10.1007/s11011-017-0168-0

Genes

BCKDHB
BCKDHA
DBT
DLD

Provenance

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

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