title: Chronic management and health supervision of individuals with propionic acidemia.
abstract: 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.
authors.affiliation: Department of Molecular & Human Genetics, Baylor College of Medicine & Texas Children's Hospital, Houston, TX, USA. vrsutton@texaschildrens.org
authors.forename: V Reid
authors.initials: VR
authors.lastname: Sutton
authors.forename: Kimberly A
authors.initials: KA
authors.lastname: Chapman
authors.forename: Andrea L
authors.initials: AL
authors.lastname: Gropman
authors.forename: Erin
authors.initials: E
authors.lastname: MacLeod
authors.forename: Kathy
authors.initials: K
authors.lastname: Stagni
authors.forename: Marshall L
authors.initials: ML
authors.lastname: Summar
authors.forename: Keiko
authors.initials: K
authors.lastname: Ueda
authors.forename: Nicholas
authors.initials: N
authors.lastname: Ah Mew
authors.forename: Jill
authors.initials: J
authors.lastname: Franks
authors.forename: Eddie
authors.initials: E
authors.lastname: Island
authors.forename: Dietrich
authors.initials: D
authors.lastname: Matern
authors.forename: Loren
authors.initials: L
authors.lastname: Peña
authors.forename: Brittany
authors.initials: B
authors.lastname: Smith
authors.forename: Tina
authors.initials: T
authors.lastname: Urv
authors.forename: Charles
authors.initials: C
authors.lastname: Venditti
authors.forename: Anupam
authors.initials: A
authors.lastname: Chakarapani
mesh_terms: D004632:Emergency Medical Services; D005774:Gastrostomy; D006287:Health Planning Guidelines; D006801:Humans; D016031:Liver Transplantation; D009747:Nutritional Physiological Phenomena; D056693:Propionic Acidemia / Q000150:complications / Q000188:drug therapy / Q000276:immunology / Q000628:therapy*