Diseases Studied
The Rare Diseases Clinical Research Network is an NIH-funded research network of 21 active consortia or research groups working to advance treatment for diseases that are rare. Use the search tools on this page to find the diseases we currently study. You can reach out to the indicated consortia or research groups for more information on those diseases and studies underway.
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All Diseases > Propionic acidemia
Propionic acidemia
Disease Category: Organic Acidemias
Propionic acidemia is a genetic metabolic condition in which the body cannot break down certain parts of proteins and fats. This leads to a build-up of toxic substances and to bouts of serious illness called decompensation events or metabolic crises. Symptoms of a decompensation event include poor feeding, vomiting, weak muscle tone (hypotonia), and lack of energy (lethargy). Without early diagnosis and treatment, these symptoms may lead to more serious medical problems, including heart abnormalities, seizures, intellectual disability, coma, and possibly death. Propionic acidemia is caused by changes in the PCCA and PCCB genes and is inherited in an autosomal recessive pattern. Propionic acidemia is included on the recommended uniform newborn screening panel in the United States.
Research groups studying this disease
Organic Acidemias
Rare Organic Acidemias Research Consortium (ROAR)
Organic Acidemia Association
Our mission is to empower families and healthcare professionals with knowledge in organic acidemia metabolic 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
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.