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Related Experiment Videos

Methylmalonic and propionic acidaemias: management and outcome.

H Ogier de Baulny1, J F Benoist, O Rigal

  • 1Hôpital Robert Debré, Paris, France. helene.ogier@rdb.ap-hop-paris.fr

Journal of Inherited Metabolic Disease
|May 4, 2005
PubMed
Summary

Improved management has increased survival for organic acidurias like methylmalonic aciduria (MMA) and propionic aciduria (PA). However, many survivors face growth issues and neurological impairments, highlighting the need for ongoing metabolic monitoring.

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Area of Science:

  • Biochemistry
  • Genetics
  • Pediatrics

Background:

  • Organic acidurias are a group of metabolic disorders.
  • Methylmalonic aciduria (MMA) and propionic aciduria (PA) are the most prevalent types.
  • Long-term outcomes for MMA and PA are relatively well-documented.

Purpose of the Study:

  • To compare the outcomes of patients with MMA and PA born before and after 1990.
  • To assess the impact of improved management on survival and long-term health.
  • To evaluate developmental and neurological outcomes in affected children.

Main Methods:

  • Retrospective analysis of patient data.
  • Comparison of outcomes based on birth year cohorts (pre- and post-1990).
  • Assessment of survival rates, nutritional status, growth, and neurological/visceral complications.

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Main Results:

  • Improved neonatal and long-term management has increased survival rates, with less than 20% mortality before age 10.
  • Most survivors experience growth retardation and approximately 40% have visceral or neurological impairments.
  • Developmental outcomes appear improved in MMA patients (40% with IQ > 75), while PA patients frequently show intellectual disability (60% with IQ < 75).
  • Liver/renal transplantation improved quality of life in some but did not prevent complications.

Conclusions:

  • Enhanced management strategies have positively impacted survival rates for MMA and PA.
  • Despite improved survival, significant long-term morbidities including growth and neurological deficits persist.
  • Continuous metabolic follow-up is crucial for all patients with organic acidurias, irrespective of treatment.
  • Differential outcomes between MMA and PA highlight the need for tailored management approaches.