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Novel mutations in a Thai patient with methylmalonic acidemia.

Molecular genetics and metabolism - 1 Aug 2003

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

Abstract excerpt

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...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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

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Source receipt: pubmed, retrieved 7 Sept 2026.

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