Chronic management and health supervision of individuals with propionic acidemia.


Journal Article (Review)

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.

Full Text

Cited Authors

  • Sutton, VR; Chapman, KA; Gropman, AL; MacLeod, E; Stagni, K; Summar, ML; Ueda, K; Ah Mew, N; Franks, J; Island, E; Matern, D; Peña, L; Smith, B; Urv, T; Venditti, C; Chakarapani, A

Published Date

  • January 2012

Published In

Volume / Issue

  • 105 / 1

Start / End Page

  • 26 - 33

PubMed ID

  • 21963082

Pubmed Central ID

  • 21963082

Electronic International Standard Serial Number (EISSN)

  • 1096-7206

International Standard Serial Number (ISSN)

  • 1096-7192

Digital Object Identifier (DOI)

  • 10.1016/j.ymgme.2011.08.034


  • eng