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Article

Eleven novel mutations of the BCKDHA, BCKDHB and DBT genes associated with maple syrup urine disease in the Chinese population: Report on eight cases.

European journal of medical genetics - 1 Nov 2015

Li Xiyuan, Ding Yuan, Liu Yupeng, Ma Yanyan, Song Jinqing, Wang Qiao, Li Mengqiu, Qin Yaping, Yang Yanling

Abstract excerpt

Maple syrup urine disease (MSUD) is a rare autosomal recessive disorder that affects the degradation of branched chain amino acids (BCAAs). Only a few cases of MSUD have been documented in Mainland China, and prenatal diagnosis has not been performed so far. In this report, 8 patients (4 girls and 4 boys) with MSUD from 8 unrelated Chinese families were diagnosed at the age of 9 days to 1 year and 8 months. The...

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Source

Identifiers

PMID: 26453840
DOI: 10.1016/j.ejmg.2015.10.002

Genes

BCKDHA
BCKDHB
DBT

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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