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

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

Abstract 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 s...

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Bibliographic Details
Main Authors: Wei Feng, Jinfu Jia, Heyang Guan, Qing Tian
Format: Article
Language:English
Published: BMC 2019-12-01
Series:BMC Pediatrics
Subjects:
Maple syrup urine disease
DBT gene mutation
Thiamine
Children
Online Access:https://doi.org/10.1186/s12887-019-1880-1

Internet

https://doi.org/10.1186/s12887-019-1880-1

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