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Diseases

Genetic and Rare Diseases Information Center (GARD)

Propionic acidemia


Other Names for this Disease
  • Propionyl-CoA carboxylase deficiency
  • PCC deficiency
  • Glycinemia, ketotic
  • Hyperglycinemia with ketoacidosis and leukopenia
  • Ketotic hyperglycinemia
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Treatment

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How might propionic acidemia be treated?

Appropriate dietary management is the main treatment for propionic acidemia. It is recommended that individuals with propionic acidemia consume a low-protein diet. This helps prevent a metabolic crisis. Several commercially produced formulas are available that provide a protein supplement without any of the 4 amino acids that result in propionate production.[1][2] However, since these amino acids are essential for human development, closely monitored quantities will need to be added. This should be done with the guidance of a biochemical geneticist and a nutritionist.[1] Some physicians recommend oral biotin or carnitine supplementation, although more research is needed to determine the effectiveness of these treatments.[1][2]  It is also important for individuals with propionic acidemia to avoid going a long time without food (fasting). Fasting may cause a metabolic crisis. Children who are having symptoms of a metabolic crisis should be treated in the hospital where they may be given medications such as bicarbonate or glucose.[2]


Last updated: 12/22/2015

References
  1. Karl S Roth. Genetics of Propionic Acidemia (Propionyl CoA Carboxylase Deficiency). Medscape Reference. November 2014; http://emedicine.medscape.com/article/948084-overview.
  2. Propionic Acidemia. Screening, Technology and Research in Genetics (STAR-G). 2008; http://www.newbornscreening.info/Parents/organicaciddisorders/PA.html#4. Accessed 3/30/2011.


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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 Propionic acidemia. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.
Other Names for this Disease
  • Propionyl-CoA carboxylase deficiency
  • PCC deficiency
  • Glycinemia, ketotic
  • Hyperglycinemia with ketoacidosis and leukopenia
  • Ketotic hyperglycinemia
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.