Chronic management and health supervision of individuals with propionic acidemia

Mol Genet Metab. 2012 Jan;105(1):26-33. doi: 10.1016/j.ymgme.2011.08.034. Epub 2011 Sep 10.


Propionic acidemia is a relatively rare inborn error of metabolism. Individuals with propionic acidemia often have life-threatening episodes of hyperammonemia and metabolic acidosis, as well as intellectual disability. There are many reports of additional problems, including poor growth, stroke-like episodes of the basal ganglia, seizures, cardiomyopathy, long QTc syndrome, immune defects, pancreatitis and optic neuropathy; however, there is little information about the incidence of these problems in this rare disease. Additionally, there are no clear guidelines for medical or surgical management of individuals with propionic acidemia. Through a comprehensive and systematic review of the current medical literature and survey of expert opinion, we have developed practice guidelines for the chronic management of individuals with propionic acidemia, including dietary therapy, use of medications, laboratory monitoring, chronic health supervision, use of gastrostomy tubes and liver transplantation.

Publication types

  • Review
  • Systematic Review

MeSH terms

  • Emergency Medical Services
  • Gastrostomy
  • Health Planning Guidelines*
  • Humans
  • Liver Transplantation
  • Nutritional Physiological Phenomena
  • Propionic Acidemia / complications
  • Propionic Acidemia / drug therapy
  • Propionic Acidemia / immunology
  • Propionic Acidemia / therapy*