Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Case report: maple syrup urine disease with a novel DBT gene mutation.

BMC pediatrics - 13 Dec 2019

Feng Wei, Jia Jinfu, Guan Heyang, Tian Qing

Abstract excerpt

BACKGROUND: Maple syrup urine disease (MSUD) is a potentially life-threatening metabolic disorder caused by decreased activity of the branched-chain α-ketoacid dehydrogenase (BCKD) complex. Mutations in four genes (BCKDHA, BCKDHB, DLD and DBT) are associated with MSUD. Here, the presenting symptoms and clinical course of a case of MSUD with a novel DBT gene mutation are described. CASE PRESENTATION: We describe...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Acyltransferases
Share to Infant
Share to Maple Syrup Urine Disease

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Mutation

Source

Open in PubMed Open full text

Identifiers

PMID: 31830945
DOI: 10.1186/s12887-019-1880-1
PMCID: PMC6909553

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.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Case report: maple syrup urine disease with a novel DBT gene mutation.PMID 31830945Read ↗

Three novel mutations of the BCKDHA, BCKDHB and DBT genes in Chinese children with maple syrup urine disease.Semantic proximity Read ↗

Clinical characteristics and mutation analysis of five Chinese patients with maple syrup urine disease.Semantic proximity Read ↗

Two novel mutations in the BCKDHB gene that cause maple syrup urine disease.Semantic proximity Read ↗

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

Identification of eight novel mutations in 11 Chinese patients with maple syrup urine disease.Semantic proximity Read ↗

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

Clues and challenges in the diagnosis of intermittent maple syrup urine disease.Semantic proximity Read ↗

Neonatal maple syrup urine disease in China: two novel mutations in the BCKDHB gene and literature review.Semantic proximity Read ↗

Analysis of gene mutations among South Indian patients with maple syrup urine disease: identification of four novel mutations.Semantic proximity Read ↗

Expanding the Genetic Spectrum of PPM1K-Related Maple Syrup Urine Disease: A Novel Mutation.Semantic proximity Read ↗

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

Expanding the genotypic and phenotypic spectrum of Egyptian children with maple syrup urine disease.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.