The molecular landscape of propionic acidemia and methylmalonic aciduria in Latin America

@article{Prez2010TheML,
  title={The molecular landscape of propionic acidemia and methylmalonic aciduria in Latin America},
  author={Bel{\'e}n P{\'e}rez and Celia J. Angaroni and Roc{\'i}o S{\'a}nchez-Alcudia and Bego{\~n}a Merinero and Celia P{\'e}rez-Cerd{\'a} and N. Specola and Pilar Rodr{\'i}guez-Pombo and Moacir Wajner and Raquel Dodelson de Kremer and Ver{\'o}nica Cornejo and Lourdes R Desviat and Magdalena Ugarte},
  journal={Journal of Inherited Metabolic Disease},
  year={2010},
  volume={33},
  pages={307-314}
}
In this work, we review the clinical and genetic data in 14 Latin American propionic acidemia (PA) and 15 methylmalonic aciduria (MMAuria) patients. In the PA patients, we have identified four different changes in the PCCA gene, including one novel one (c.414+5G>A) affecting the splicing process. The PCCB mutational spectrum included two prevalent changes accounting for close to 60% of the mutant alleles studied and one novel change (c.494G>C) which by functional analysis is clearly pathogenic… CONTINUE READING