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Case Reports
. 2003 Aug;79(4):300-2.
doi: 10.1016/s1096-7192(03)00106-9.

Novel mutations in a Thai patient with methylmalonic acidemia

Voraratt Champattanachai  1 , James R Ketudat Cairns, Vorasuk Shotelersuk, Siriporn Keeratichamroen, Phannee Sawangareetrakul, Chantragan Srisomsap, Verachai Kaewpaluek, Jisnuson Svasti
Affiliations
Case Reports

Novel mutations in a Thai patient with methylmalonic acidemia

Voraratt Champattanachai et al. Mol Genet Metab. 2003 Aug.

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.

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