title: [Maple syrup urine disease and gene mutations in twin neonates].
abstract: OBJECTIVE
  To investigate the clinical features of one pair of twin neonates with maple syrup urine disease (MSUD) in the Chinese Han population and pathogenic mutations in related genes, and to provide guidance for the early diagnosis and treatment of MSUD.
  
  
  METHODS
  The clinical and imaging data of the twin neonates were collected. The peripheral blood samples were collected from the twin neonates and their parents to detect the genes related to MSUD (BCKDHA, BCKDHB, DBT, and DLD). The loci with gene mutations were identified, and a bioinformatic analysis was performed.
  
  
  RESULTS
  Two mutations were detected in the BCKDHB gene, missense mutation c.304G>A (p.Gly102Arg) and nonsense mutation c.331C>T (p.Arg111*), and both of them were heterozygotes. The mutation c.304G>A (p.Gly102Arg) had not been reported in the world. Their father carried the missense mutation c.304G>A (p.Gly102Arg), and their mother carried the nonsense mutation c.331C>T (p.Arg111*).
  
  
  CONCLUSIONS
  The c.331C>T (p.Arg111*) heterozygous mutation in BCKDHB gene is the pathogenic mutation in these twin neonates and provides a genetic and molecular basis for the clinical features of children with MSUD.
authors.affiliation: Department of Pediatrics, Affiliated Hospital of Jining Medical University, Jining, Shandong 272000, China. jyfylitao@163.com.
authors.forename: Tao
authors.initials: T
authors.lastname: Li
authors.forename: Yu
authors.initials: Y
authors.lastname: Wang
authors.forename: Cui
authors.initials: C
authors.lastname: Li
authors.forename: Wei-Wei
authors.initials: WW
authors.lastname: Xu
authors.forename: Feng-Hai
authors.initials: FH
authors.lastname: Niu
authors.forename: Di
authors.initials: D
authors.lastname: Zhang
mesh_terms: D042942:3-Methyl-2-Oxobutanoate Dehydrogenase (Lipoamide) / Q000235:genetics*; D004200:Diseases in Twins; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D008375:Maple Syrup Urine Disease / Q000235:genetics*; D009154:Mutation
chemical_list: D042942:3-Methyl-2-Oxobutanoate Dehydrogenase (Lipoamide)