Zhonghua Yi Xue Yi Chuan Xue Za Zhi
October 2018
Objective: To explore the genetic etiology of a patient with classic maple syrup urine disease (MSUD).
Methods: Next-generation sequencing (NGS) was used to screen the exons of BCKDHA, BCKDHB, DBT and DLD genes. Suspected mutations were verified by Sanger sequencing.