title: Novel mutations found in two genes of thai patients with isolated methylmalonic acidemia.
abstract: Molecular genetic analysis of three patients diagnosed with isolated methylmalonic acidemia (MMA) revealed that one was mut (0) MMA, with a mutation in the MUT gene encoding the L: -methylmalonyl-CoA mutase (MCM), and two were cblB MMA, with mutations in the MMAB gene required for synthesizing the deoxyadenosylcobalamin cofactor of MCM. The mut (0) patient was homozygous for a novel nonsense mutation in MUT, p.R31X (c.167C --> T), and heterozygous for three previously described polymorphisms, p.K212K (c.712A --> G), p.H532R (c.1671A --> G), and p.V671I (c.2087G --> A). The new MMAB mutation, p.E152X (c.454G --> T), was found to be homozygous in one cblB patient and heterozygous in the other patient, who also had four intron polymorphisms in this gene.
authors.affiliation: Laboratory of Biochemistry, Chulabhorn Research Institute, Vibhavadee Rangsit Road, Bangkok, 10210, Thailand.
authors.forename: Siriporn
authors.initials: S
authors.lastname: Keeratichamroen
authors.forename: James R Ketudat
authors.initials: JR
authors.lastname: Cairns
authors.forename: Phannee
authors.initials: P
authors.lastname: Sawangareetrakul
authors.forename: Somporn
authors.initials: S
authors.lastname: Liammongkolkul
authors.forename: Voraratt
authors.initials: V
authors.lastname: Champattanachai
authors.forename: Chantragan
authors.initials: C
authors.lastname: Srisomsap
authors.forename: Mahattana
authors.initials: M
authors.lastname: Kamolsilp
authors.forename: Pornswan
authors.initials: P
authors.lastname: Wasant
authors.forename: Jisnuson
authors.initials: J
authors.lastname: Svasti
mesh_terms: D000138:Acidosis / Q000175:diagnosis / Q000235:genetics*; D019883:Alkyl and Aryl Transferases / Q000235:genetics*; D000592:Amino Acid Metabolism, Inborn Errors / Q000235:genetics*; D004252:DNA Mutational Analysis; D005260:Female; D005838:Genotype; D006720:Homozygote; D006801:Humans; D007223:Infant; D008297:Male; D008764:Methylmalonic Acid / Q000652:urine*; D008765:Methylmalonyl-CoA Mutase / Q000235:genetics*; D009154:Mutation / Q000235:genetics*; D010641:Phenotype; D013785:Thailand
chemical_list: D008764:Methylmalonic Acid; D019883:Alkyl and Aryl Transferases; C019920:cob(I)alamin adenosyltransferase; D008765:Methylmalonyl-CoA Mutase