title: Novel mutations in a Thai patient with methylmalonic acidemia.
abstract: A Thai patient with methylmalonic acidemia (MMA) and no methylmalonyl-CoA mutase (MCM, EC 5.4.99.2) activity in leukocytes in the presence of deoxyadenosyl cobalamin (mut(0)) was found to be heterozygous for two novel mutations: 1048delT and 1706_1707delGGinsTA (G544X), inherited from her mother and father, respectively. The proband was also heterozygous for the polymorphism, A499T, which did not affect the activity of recombinant MCM.
authors.affiliation: Laboratory of Biochemistry, Chulabhorn Research Institute, Vipavadee-Rangsit Highway, Bangkok 10210, Thailand.
authors.forename: Voraratt
authors.initials: V
authors.lastname: Champattanachai
authors.forename: James R
authors.initials: JR
authors.lastname: Ketudat Cairns
authors.forename: Vorasuk
authors.initials: V
authors.lastname: Shotelersuk
authors.forename: Siriporn
authors.initials: S
authors.lastname: Keeratichamroen
authors.forename: Phannee
authors.initials: P
authors.lastname: Sawangareetrakul
authors.forename: Chantragan
authors.initials: C
authors.lastname: Srisomsap
authors.forename: Verachai
authors.initials: V
authors.lastname: Kaewpaluek
authors.forename: Jisnuson
authors.initials: J
authors.lastname: Svasti
mesh_terms: D000592:Amino Acid Metabolism, Inborn Errors / Q000235:genetics*; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D007962:Leukocytes / Q000201:enzymology; D008764:Methylmalonic Acid / Q000652:urine*; D008765:Methylmalonyl-CoA Mutase / Q000172:deficiency* / Q000235:genetics*; D009154:Mutation; D013785:Thailand
chemical_list: D008764:Methylmalonic Acid; D008765:Methylmalonyl-CoA Mutase