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

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...

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Detalles Bibliográficos
Autores principales: Feng, Wei, Jia, Jinfu, Guan, Heyang, Tian, Qing
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2019
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6909553/
https://www.ncbi.nlm.nih.gov/pubmed/31830945
http://dx.doi.org/10.1186/s12887-019-1880-1

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6909553/
https://www.ncbi.nlm.nih.gov/pubmed/31830945
http://dx.doi.org/10.1186/s12887-019-1880-1

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