Propionic acidemia
Synonyms: Ketotic hyperglycinemia | Propionic aciduria | Propionyl-CoA carboxylase deficiency
Propionic acidemia (PA) is an organic aciduria caused by the deficient activity of the propionyl Coenzyme A carboxylase and is characterized by life threatening episodes of metabolic decompensation neurological dysfunction and that may be complicated by cardiomyopathy.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Reference: Access aggregated data from Orphanet at Orphadata.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version April 2024
Newly diagnosed with
Propionic acidemia?
Our RARE Concierge Services Guides are available to assist you by providing information, resources and connections as you navigate your rare disease journey.
Advocacy Organizations
Louisiana Metabolic Disorders Coalition
We support, educate, and advocate for patients & families affected by metabolic disorders.
Mississippi Metabolics Foundation
Our mission at Mississippi Metabolics Foundation (MMF) is to advocate, educate, and support families in MS affected by genetic metabolic disorders/inborn errors of metabolism (IEM's). MMF promotes initiatives and further advancements in legislation, education, research, clinical trials, studies, therapies, targeted treatments, and eventual cures for IEM’s and all rare diseases.
Organic Acidemia Association
Our mission is to empower families and health care professionals with knowledge in these disorders. We support early intervention through expanded newborn screening, solicit contributions, and distribute funding that supports research toward improved treatment, and eventual cures in the areas of Organic Acid disorders.
Propionic Acidemia Foundation
The Propionic Acidemia Foundation is dedicated to finding improved treatments and a cure for Propionic Acidemia by funding research and providing information and support to families and medical professionals.
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
flok Health (formerly National PKU News)
National PKU News provides resources and support for individuals, families, and clinicians managing PKU (Phenylketonuria) and other inborn errors of metabolism. Our mission is to leverage innovation, insight, and research to improve the health, well-being, and daily lives of those with PKU and other IEMs.
Clinical Trials
For a list of clinical trials in this disease area, please click here.