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Methylmalonic and propionic aciduria.

Federica Deodato1, Sara Boenzi, Filippo M Santorelli

  • 1Division of Metabolism, Bambino Gesù Children's Hospital, Piazza S. Onofrio 4, I-00165 Rome, Italy.

American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
|April 8, 2006
PubMed
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Methylmalonic aciduria and propionic aciduria are serious genetic disorders affecting metabolism. Despite improved treatments and newborn screening, long-term outcomes remain challenging, necessitating further research into effective therapies.

Area of Science:

  • Biochemistry
  • Genetics
  • Metabolic Disorders

Background:

  • Methylmalonic aciduria (MMA) and propionic aciduria (PA) are common inherited metabolic diseases.
  • These disorders stem from deficiencies in methylmalonyl-CoA mutase or propionyl-CoA carboxylase, leading to toxic compound accumulation and neurological issues.
  • Clinical presentations range from severe neonatal forms to milder, later-onset types, all carrying risks of metabolic decompensation and organ failure.

Purpose of the Study:

  • To review the current understanding of methylmalonic aciduria and propionic aciduria, including diagnosis, treatment, and outcomes.
  • To evaluate the effectiveness of emerging therapies like liver transplantation and the impact of neonatal screening.

Main Methods:

  • Review of existing literature on methylmalonic aciduria and propionic aciduria.

Related Experiment Videos

  • Analysis of diagnostic methods including organic acid analysis and acylcarnitine profiling.
  • Assessment of therapeutic strategies: diet, supplementation, medication, and liver transplantation.

    • Main Results:

    • Diagnosis relies on detecting specific metabolites in bodily fluids.
    • Standard treatments include dietary modifications, carnitine, and metronidazole; vitamin B12 may help some MMA patients.
    • Liver transplantation shows limited proven benefit currently, and neonatal screening's long-term impact is still under evaluation.

    Conclusions:

    • Methylmalonic aciduria and propionic aciduria present significant challenges despite therapeutic advancements.
    • Neonatal screening improves short-term outcomes but requires longer follow-up for definitive conclusions on long-term prognosis.
    • Further research is needed to establish more effective treatments and improve patient survival and quality of life.