Other Names for this Disease
- Glycinemia, ketotic
- Hyperglycinemia with ketoacidosis and leukopenia
- Ketotic glycinemia
- Ketotic hyperglycinemia
- PCC deficiency
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Appropriate dietary management is the mainstay of treatment. 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.
Last updated: 3/30/2011
- Karl S Roth. Propionic Acidemia (Propionyl CoA Carboxylase Deficiency): Treatment & Medication. eMedicine. September 10, 2009; http://emedicine.medscape.com/article/948084-treatment. Accessed 3/30/2011.
- Propionic Acidemia. Screening, Technology and Research in Genetics (STAR-G). 2008; http://www.newbornscreening.info/Parents/organicaciddisorders/PA.html#4. Accessed 3/30/2011.
- Finding Treatment Information - A video developed by GARD Information Specialists that explains how you can find information about treatment for a rare disease.
- 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.