Novel mutations in a Thai patient with methylmalonic acidemia

Voraratt Champattanachai; James R Ketudat Cairns; Vorasuk Shotelersuk; Siriporn Keeratichamroen; Phannee Sawangareetrakul; Chantragan Srisomsap; Verachai Kaewpaluek; Jisnuson Svasti

doi:10.1016/s1096-7192(03)00106-9

Novel mutations in a Thai patient with methylmalonic acidemia

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

Authors

Voraratt Champattanachai¹, James R Ketudat Cairns, Vorasuk Shotelersuk, Siriporn Keeratichamroen, Phannee Sawangareetrakul, Chantragan Srisomsap, Verachai Kaewpaluek, Jisnuson Svasti

Affiliation

¹ Laboratory of Biochemistry, Chulabhorn Research Institute, Vipavadee-Rangsit Highway, Bangkok 10210, Thailand.

PMID: 12948746
DOI: 10.1016/s1096-7192(03)00106-9

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.

Publication types

Case Reports
Research Support, Non-U.S. Gov't

MeSH terms

Amino Acid Metabolism, Inborn Errors / genetics*
Female
Humans
Infant, Newborn
Leukocytes / enzymology
Methylmalonic Acid / urine*
Methylmalonyl-CoA Mutase / deficiency*
Methylmalonyl-CoA Mutase / genetics*
Mutation*
Thailand

Substances

Methylmalonic Acid
Methylmalonyl-CoA Mutase