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Article

[Maple syrup urine disease caused by two novel BCKDHB gene mutations in a Chinese neonate].

Zhonghua er ke za zhi = Chinese journal of pediatrics - 1 Jan 2015

Shen Yunlin, Gong Xiaohui, Yan Jingbin, Qin Li, Qiu Gang

Abstract excerpt

OBJECTIVE: Maple syrup urine disease (MSUD) is an autosomal recessive metabolic disorder that is caused by mutations in the subunits of the branched chain α-ketoacid dehydrogenase (BCKD) complex. This report presents a Han ethnic Chinese newborn infant with the severe classic form of MSUD caused by two novel missense mutations in the BCKDHB gene. METHOD: The clinical and biochemical data of a Chinese neonate with...

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Source

Identifiers

PMID: 25748408

Genes

BCKDHB
BCKDHA
DBT
DLD

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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