Methylmalonic and propionic acidaemias: management and outcome

J Inherit Metab Dis. 2005;28(3):415-23. doi: 10.1007/s10545-005-7056-1.


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 surviving patients showed poor nutritional status with growth retardation and about 40% present some kind of visceral or neurological impairment. The developmental outcome may have improved in MMA patients, with IQ higher than 75 in about 40% patients aged more than 4 years. Conversely, poor intellectual development is the rule in PA patterns, with 60% having an IQ less than 75 and requiring special education. Successful liver and/or renal transplantations, in a few patients, have resulted in better quality of life but have not necessarily prevented neurological and various visceral complications. These results emphasize the need for permanent metabolic follow-up whatever the therapeutic strategy.

Publication types

  • Review

MeSH terms

  • Child, Preschool
  • Humans
  • Infant
  • Infant, Newborn
  • Long-Term Care
  • Metabolism, Inborn Errors / therapy*
  • Methylmalonic Acid / blood*
  • Nutritional Support
  • Propionates / blood*
  • Toxins, Biological / metabolism
  • Treatment Outcome


  • Propionates
  • Toxins, Biological
  • Methylmalonic Acid
  • propionic acid