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 September 2023.
Newly diagnosed with
Propionic acidemia?
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Advocacy Organizations
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.
Mississippi Metabolics Foundation
Mississippi Metabolics Foundation (MMF) was founded to raise awareness, educate, and provide support to those living or caring for someone with genetic metabolic disorders/inborn errors of metabolism (IEM).
Louisiana Metabolic Disorders Coalition
We support, educate, and advocate for patients & families affected by metabolic disorders.
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
Clinical Trials
For a list of clinical trials in this disease area, please click here.