title: Report - Report on the heterozygosis mutations of c.567dupT, p.(Ile190Tyrfs*13) of MMACHC gene in 1 Child patient with methylmalonic academia.
abstract: This article reported 1 child patient with early-onset methylmalonic acidemia and proceeded gene detection for the child and his parents. The detecting results showed that there were respectively heterozygosis mutations of c.609G>A,p.(Trp203*) and c.567dupT,p.(Ile190Tyrfs*13) in the MMA CHC gene of child's parents, and all of the diseases were entailed to the child and caused the paroxysm of child. Consequently, the c.567dupT,p.(Ile190Tyrfs*13) was considered as a kind of new gene mutation. After being treated with vitamin B12 and levocamitine, the clinical symptoms and organic acid content of hematuresis of this child patient had taken a turn for the better.
authors.affiliation: Department of Pediatric Neurology, Zhengzhou Children's Hospital, Henan, China.
authors.forename: Kai
authors.initials: K
authors.lastname: Liu
authors.affiliation: Department of Pediatric Neurology, Zhengzhou Children's Hospital, Henan, China.
authors.forename: Guohong
authors.initials: G
authors.lastname: Chen
authors.affiliation: Department of Pediatric Neurology, Zhengzhou Children's Hospital, Henan, China.
authors.forename: Yanli
authors.initials: Y
authors.lastname: Ma
authors.affiliation: Department of Pediatric Neurology, Zhengzhou Children's Hospital, Henan, China.
authors.forename: Yixin
authors.initials: Y
authors.lastname: Xian
authors.affiliation: Department of Pediatric Neurology, Zhengzhou Children's Hospital, Henan, China.
authors.forename: Zhang
authors.initials: Z
authors.lastname: Zhang
mesh_terms: D000592:Amino Acid Metabolism, Inborn Errors / Q000175:diagnosis / Q000235:genetics* / Q000628:therapy; D002352:Carrier Proteins / Q000235:genetics*; D004252:DNA Mutational Analysis; D020022:Genetic Predisposition to Disease; D040941:Heredity; D006579:Heterozygote; D006801:Humans; D007223:Infant; D008297:Male; D009154:Mutation; D010088:Oxidoreductases; D010375:Pedigree; D010641:Phenotype
chemical_list: D002352:Carrier Proteins; C508359:MMACHC protein, human; D010088:Oxidoreductases