Wei-Hua Sun, Bing-Bing Wu, Ya-Qiong Wang, Meng-Yuan Wu, Xin-Ran Dong, Yue-Ping Zhang, Wei Lu, Ping Zhang, Bin Yang, Min Zhang, Hong-Jiang Wu, Wen-Hao Zhou
BACKGROUND: Maple syrup urine disease (MSUD) is an autosomal recessive inherited disorder that affects the degradation of branched-chain amino acids and is associated with acute and chronic brain dysfunction. This study presents 11 new patients with MSUD and describes the clinical characteristics and gene mutations reported in Chinese individuals. METHODS: During 2011-2018, 11 pedaitric patients with MSUD from 11 Chinese families were analyzed based on clinical characteristics and mass spectrometry, with confirmation via gene sequencing...
August 2020: World Journal of Pediatrics: WJP