title: Genetic analysis of four cases of methylmalonic aciduria and homocystinuria, cblC type#.
abstract: Methylmalonic aciduria and homocystinuria, cblC type, is the most common disorder of intracellular vitamin B12 (cobalamin, cbl) metabolism, which results in impaired biosynthesis of methylcobalamin and adenosylcobalamin. The gene MMACHC responsible for the cblC type had been identified, which enables molecular diagnostics. Here, we report four cblC type cases, which were identified by the typical manifestations, and a new approach of next-generation sequencing platform in pediatrics for genetic diseases, further confirmed by Sanger sequencing of the whole MMACHC gene. The article will replenish the mutational information of related genes to the cblC type, which makes for detecting of cblC disease through the newborn screening.
authors.affiliation: Department of Neurology, Capital Institute of Pediatrics Beijing, PR China.
authors.forename: Jun
authors.initials: J
authors.lastname: Wang
authors.affiliation: Department of Neurology, Capital Institute of Pediatrics Beijing, PR China.
authors.forename: Erzhen
authors.initials: E
authors.lastname: Li
authors.affiliation: Department of Neurology, Capital Institute of Pediatrics Beijing, PR China.
authors.forename: Liwen
authors.initials: L
authors.lastname: Wang
authors.affiliation: Clinical Laboratory of Zhongke Beijing, PR China.
authors.forename: Zhilong
authors.initials: Z
authors.lastname: Wang
authors.affiliation: Department of Neurology, Capital Institute of Pediatrics Beijing, PR China.
authors.forename: Shenghai
authors.initials: S
authors.lastname: Yang
authors.affiliation: Clinical Laboratory of Zhongke Beijing, PR China.
authors.forename: Qiao
authors.initials: Q
authors.lastname: Zhou
authors.affiliation: Department of Neurology, Capital Institute of Pediatrics Beijing, PR China.
authors.forename: Qian
authors.initials: Q
authors.lastname: Chen
mesh_terms: D000592:Amino Acid Metabolism, Inborn Errors / Q000235:genetics*; D002352:Carrier Proteins / Q000235:genetics*; D002648:Child; D004252:DNA Mutational Analysis; D005260:Female; D005820:Genetic Testing; D006712:Homocystinuria / Q000235:genetics*; D006801:Humans; D007223:Infant; D009154:Mutation; D010088:Oxidoreductases; D014806:Vitamin B 12 Deficiency / Q000151:congenital* / Q000235:genetics
chemical_list: D002352:Carrier Proteins; C508359:MMACHC protein, human; D010088:Oxidoreductases
keywords: Cb1); MMACHC; Methylmalonic aciduria and homocystinuria; mutation; vitamin B12 (cobalamin