Novel mutations in a Thai patient with methylmalonic acidemia

Novel mutations in a Thai patient with methylmalonic acidemia

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 (mut0) was found to be heterozygous for two novel mutations: 1048delT and 1706_1707delGGinsTA (G544X), inherited from her mother and f...

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Bibliographic Details
Main Authors: Voraratt Champattanachai, James R.Ketudat Cairns, Vorasuk Shotelersuk, Siriporn Keeratichamroen, Phannee Sawangareetrakul, Chantragan Srisomsap, Verachai Kaewpaluek, Jisnuson Svasti
Other Authors: Chulabhorn Research Institute
Format: Article
Published: 2018
Subjects:
Biochemistry, Genetics and Molecular Biology
Online Access:https://repository.li.mahidol.ac.th/handle/123456789/20706
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Institution: Mahidol University
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Summary: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 (mut0) 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. © 2003 Elsevier Science (USA). All rights reserved.

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