Novel mutations found in two genes of thai patients with isolated methylmalonic acidemia

Biochem Genet. 2007 Jun;45(5-6):421-30. doi: 10.1007/s10528-007-9085-y. Epub 2007 Apr 5.

Abstract

Molecular genetic analysis of three patients diagnosed with isolated methylmalonic acidemia (MMA) revealed that one was mut (0) 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 mut (0) 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.

Publication types

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

MeSH terms

  • Acidosis / diagnosis
  • Acidosis / genetics*
  • Alkyl and Aryl Transferases / genetics*
  • Amino Acid Metabolism, Inborn Errors / genetics*
  • DNA Mutational Analysis
  • Female
  • Genotype
  • Homozygote
  • Humans
  • Infant
  • Male
  • Methylmalonic Acid / urine*
  • Methylmalonyl-CoA Mutase / genetics*
  • Mutation / genetics*
  • Phenotype
  • Thailand

Substances

  • Methylmalonic Acid
  • Alkyl and Aryl Transferases
  • cob(I)alamin adenosyltransferase
  • Methylmalonyl-CoA Mutase