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Diseases

Genetic and Rare Diseases Information Center (GARD)

Methylmalonic acidemia


Other Names for this Disease
  • MMA
  • Acidemia, methylmalonic
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Treatment

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How might methylmalonic acidemia be treated?

No consensus exists regarding the treatment of acute methylmalonic acidmeia or the chronic complications of this condition. In 2014, professionals across 12 European countries and the United States developed guidelines based on rigorous literature evaluation and expert group meetings that outline the current management recommendations and areas for further research. Visit the following link to access the proposed guidelines.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4180313/

In general, methylmalonic acidemia is treated with a low-protein, high-calorie diet, certain medications, antibiotics and, in some cases, organ transplantation. Medication treatment consists of cobalamin (vitamin B12) given as an injection, carnitine and antibiotics. The diet is protein-restricted to limit the intake of isoleucine, threonine, methionine, and valine because these substances can turn into methylmalonic acid in an affected patient. Most patients also need to take a special formula created without certain amino acids but containing others to make sure they are getting enough protein for growth. Each patient's diet and medication regimen should be individually adjusted to meet their specific needs.[1]
Last updated: 5/5/2016

References
  1. Clinical and Basic Investigations of Methylmalonic Acidemia (MMA) and Related Disorders. National Human Genome Research Institute (NHGRI). April 20, 2012; https://www.genome.gov/19016900/.


Management Guidelines

  • GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.
  • Orphanet Emergency Guidelines is an article which is expert-authored and peer-reviewed that is intended to guide health care professionals in emergency situations involving this condition.  

Clinical Trials & Research for this Disease

  • ClinicalTrials.gov lists trials that are studying or have studied Methylmalonic acidemia. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.
Other Names for this Disease
  • MMA
  • Acidemia, methylmalonic
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.