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Article

Two novel mutations in the BCKDHB gene that cause maple syrup urine disease.

Pediatrics and neonatology - 1 Oct 2018

Han Bingjuan, Han Bingchao, Guo Bin, Liu Yingxia, Cao Zhiyang

Abstract excerpt

BACKGROUND: Maple syrup urine disease (MSUD) is a rare metabolic disorder of autosomal recessive inheritance caused by decreased activity of branched-chain α-ketoacid dehydrogenase complex (BCKD). Mutations in the three genes (BCKDHA, BCKDHB and DBT) are associated with MSUD. Here, we describe the presenting symptoms, clinical course and gene mutation analysis of a Chinese boy with MSUD. METHODS: Plasma amino...

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Source

Identifiers

PMID: 29366676
DOI: 10.1016/j.pedneo.2018.01.006

Genes

BCKDHB
BCKDHA
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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