Biochemical Genetics

, Volume 45, Issue 5, pp 421–430

Novel Mutations Found in Two Genes of Thai Patients with Isolated Methylmalonic Acidemia

Authors

  • Siriporn Keeratichamroen
    • Laboratory of BiochemistryChulabhorn Research Institute
  • James R. Ketudat Cairns
    • Laboratory of BiochemistryChulabhorn Research Institute
    • School of Biochemistry, Institute of ScienceSuranaree University of Technology
  • Phannee Sawangareetrakul
    • Laboratory of BiochemistryChulabhorn Research Institute
  • Somporn Liammongkolkul
    • Department of Pediatrics, Faculty of Medicine, Genetics Unit, Siriraj HospitalMahidol University
  • Voraratt Champattanachai
    • Laboratory of BiochemistryChulabhorn Research Institute
  • Chantragan Srisomsap
    • Laboratory of BiochemistryChulabhorn Research Institute
  • Mahattana Kamolsilp
    • Department of Pediatrics, Faculty of Medicine, Genetics UnitPhramongkutklao Hospital
  • Pornswan Wasant
    • Department of Pediatrics, Faculty of Medicine, Genetics Unit, Siriraj HospitalMahidol University
    • Laboratory of BiochemistryChulabhorn Research Institute
    • Department of Biochemistry and Center of Excellence in Protein Structure and Function, Faculty of ScienceMahidol University
Article

DOI: 10.1007/s10528-007-9085-y

Cite this article as:
Keeratichamroen, S., Cairns, J.R.K., Sawangareetrakul, P. et al. Biochem Genet (2007) 45: 421. doi:10.1007/s10528-007-9085-y

Abstract

Molecular genetic analysis of three patients diagnosed with isolated methylmalonic acidemia (MMA) revealed that one was mut0 MMA, with a mutation in the MUT gene encoding the l-methylmalonyl-CoA mutase (MCM), and two were cblB MMA, with mutations in the MMAB gene required for synthesizing the deoxyadenosylcobalamin cofactor of MCM. The mut0 patient was homozygous for a novel nonsense mutation in MUT, p.R31X (c.167C → T), and heterozygous for three previously described polymorphisms, p.K212K (c.712A → G), p.H532R (c.1671A → G), and p.V671I (c.2087G → A). The new MMAB mutation, p.E152X (c.454G → T), was found to be homozygous in one cblB patient and heterozygous in the other patient, who also had four intron polymorphisms in this gene.

Keywords

methylmalonic acidemiamethylmalonyl-CoA mutasecblB; mutation

Copyright information

© Springer Science+Business Media, LLC 2007