Methylmalonic acidaemia: Examination of genotype and biochemical data in 32 patients belonging to mut, cblA or cblB complementation group

@article{Merinero2007MethylmalonicAE,
  title={Methylmalonic acidaemia: Examination of genotype and biochemical data in 32 patients belonging to mut, cblA or cblB complementation group},
  author={Bego{\~n}a Merinero and Bel{\'e}n P{\'e}rez and Celia P{\'e}rez-Cerd{\'a} and Ana Maria Cosias Rincon and Lourdes R Desviat and Miguel {\'A}ngel Mart{\'i}nez and Pedro Ruiz Sala and Mar{\'i}a Jos{\'e} Garc{\'i}a and Luis Aldamiz-Echevarr{\'i}a and Jaime Campos and Ver{\'o}nica Cornejo and M. A. Navarette del Toro and A. Lahlou M. Mahfoud and Mercedes Mart{\'i}nez-Pardo and Rossella Parini and Cleoni Pedron and Luis Rodrigo Pe{\~n}a-Quintana and Mar P{\'e}rez and Morteza Pourfarzam and Magdalena Ugarte},
  journal={Journal of Inherited Metabolic Disease},
  year={2007},
  volume={31},
  pages={55-66}
}
Methylmalonic acidaemia (MMA) is a genetic disorder caused by defects in methylmalonyl-CoA mutase or in any of the different proteins involved in the synthesis of adenosylcobalamin. The aim of this work was to examine the biochemical and clinical phenotype of 32 MMA patients according to their genotype, and to study the mutant mRNA stability by real-time PCR analysis. Using cellular and biochemical methods, we classified our patient cohort as having the MMA forms mut (n = 19), cblA (n = 9) and… CONTINUE READING