Different Gene Preferences of Maple Syrup Urine Disease in the Aboriginal Tribes of Taiwan

Maple syrup urine disease (MSUD) is a rare inborn error of metabolism caused by a deficiency of the branched-chain α-ketoacid dehydrogenase (BCKD) complex. Mutations in any one of the three different genes encoding for the BCKD components, namely, BCKDHA, BCKDHB, and DBT, may be responsible for this...

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Bibliographic Details
Main Authors: Jia-Woei Hou, Tsann-Long Hwang
Format: Article
Language:English
Published: Elsevier 2014-06-01
Series:Pediatrics and Neonatology
Subjects:
Online Access:http://www.sciencedirect.com/science/article/pii/S1875957213001861