Methylmalonic and propionic acidaemias: Management and outcome

@article{Baulny2005MethylmalonicAP,
  title={Methylmalonic and propionic acidaemias: Management and outcome},
  author={H{\'e}l{\`e}ne Ogier de Baulny and Jean François Benoist and Odile Rigal and Guy Touati and Daniel Rabier and Jean Marie Saudubray},
  journal={Journal of Inherited Metabolic Disease},
  year={2005},
  volume={28},
  pages={415-423}
}
Organic acidurias comprise many various disorders. Methylmalonic aciduria (MMA) and propionic aciduria (PA) are the most frequent diseases and the two organic acidurias for which we have better knowledge of the long-term outcome. Comparing the outcome of patients born before and after 1990, it appears that better neonatal and long-term management have improved the survival rate. Less than 20% of the patients died in either the neonatal period or before the age of 10 years. However, most… CONTINUE READING

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