[Diagnosis and follow up of 23 children with organic acidurias].

  title={[Diagnosis and follow up of 23 children with organic acidurias].},
  author={Ver{\'o}nica E Cornejo and Marta C Colombo and Gloria P Duran and Paulina Mabe and M{\'o}nica Jim{\'e}nez and Alicia de la Parra and A. Del Corte Valiente and Erna B Raimann},
  journal={Revista medica de Chile},
  volume={130 3},
BACKGROUND Propionic aciduria (PA) and Methymalonic aciduria (MMA) result from an inherited abnormality of the enzymes propionyl CoA carboxylase and methylmalonyl CoA mutase respectively. This produces marked increases in the amino acids methionine, threonine, valine and isoleucine (MTVI). Their clinical presentation can be neonatal or late onset forms… CONTINUE READING