Two novel mutations in the BCKDHB gene that cause maple syrup urine disease

Maple syrup urine disease (MSUD) is a rare metabolic disorder of autosomal recessive inheritance caused by decreased activity of branched-chain α-ketoacid dehydrogenase complex (BCKD). Mutations in the three genes (BCKDHA, BCKDHB and DBT) are associated with MSUD. Here, we describe the presenting symptoms, clinical course and gene mutation analysis of a Chinese boy with MSUD.

Source: Pediatrics and Neonatology - January 22, 2018 Category: Perinatology & Neonatology Authors: Bingjuan Han, Bingchao Han, Bin Guo, Yingxia Liu, Zhiyang Cao Tags: Original Article Source Type: research