Other Names for this Disease
- Propionyl-CoA carboxylase deficiency
- PCC deficiency
- Glycinemia, ketotic
- Hyperglycinemia with ketoacidosis and leukopenia
- Ketotic hyperglycinemia
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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. 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. Some physicians recommend oral biotin or carnitine supplementation, although more research is needed to determine the effectiveness of these treatments. 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.
Last updated: 12/22/2015
- Karl S Roth. Genetics of Propionic Acidemia (Propionyl CoA Carboxylase Deficiency). Medscape Reference. November 2014; http://emedicine.medscape.com/article/948084-overview.
- Propionic Acidemia. Screening, Technology and Research in Genetics (STAR-G). 2008; http://www.newbornscreening.info/Parents/organicaciddisorders/PA.html#4. Accessed 3/30/2011.
- 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.
- 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.