Propionic acidemia

Common Name(s)

Propionic acidemia

Propionic acidemia is an organic acid disorder in which the body is unable to process certain parts of proteins and lipids (fats) properly, and abnormal levels of propionic acid build up in the blood and tissues. The levels are toxic and cause serious health problems. In most cases, the features of propionic acidemia become apparent within a few days after birth and include poor feeding, vomiting, loss of appetite, weak muscle tone (hypotonia), and lack of energy (lethargy). These symptoms sometimes progress to more serious medical problems, including heart abnormalities, seizures, coma, and possibly death. It is caused by mutations in the PCCA and PCCB genes, which provide instructions for making a certain enzyme needed to break down proteins. It is inherited in an autosomal recessive pattern. Treatment is life-long and involves appropriate dietary management (to limit intake of certain amino acids) and addressing symptoms during a metabolic crisis.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Propionic acidemia" for support, advocacy or research.

Organic Acidemia Association

The Organic Acidemia Association is a volunteer non-profit organization whose mission is to empower families and health care 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.

Last Updated: 18 Mar 2013

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Propionic Acidemia Foundation

The Propionic Acidemia Foundation is dedicated to finding improved treatments and a cure for PA by funding research and providing information and support to families and medical professionals.

Last Updated: 29 Oct 2012

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Propionic Acidemia Research Network

The Propionic Acidemia Research Network facilitates communication between academic and clinical researchers, physicians and families to promote better treatments and a cure for propionic acidemia.

Last Updated: 9 May 2014

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Propionic acidemia" for support, advocacy or research.

Organic Acidemia Association

The Organic Acidemia Association is a volunteer non-profit organization whose mission is to empower families and health care 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.

www.oaanews.org

Last Updated: 18 Mar 2013

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Propionic Acidemia Foundation

The Propionic Acidemia Foundation is dedicated to finding improved treatments and a cure for PA by funding research and providing information and support to families and medical professionals.

http://www.pafoundation.com

Last Updated: 29 Oct 2012

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Propionic Acidemia Research Network

The Propionic Acidemia Research Network facilitates communication between academic and clinical researchers, physicians and families to promote better treatments and a cure for propionic acidemia.

http://www.paresearch.org

Last Updated: 9 May 2014

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Propionic acidemia" returned 26 free, full-text research articles on human participants. First 3 results:

Generation of a hypomorphic model of propionic acidemia amenable to gene therapy testing.
 

Author(s): Adam J Guenzel, Sean E Hofherr, Matthew Hillestad, Mary Barry, Eric Weaver, Sarah Venezia, Jan P Kraus, Dietrich Matern, Michael A Barry

Journal: Mol. Ther.. 2013 Jul;21(7):1316-23.

 

Propionic acidemia (PA) is a recessive genetic disease that results in an inability to metabolize certain amino acids and odd-chain fatty acids. Current treatment involves restricting consumption of these substrates or liver transplantation. Deletion of the Pcca gene in mice mimics ...

Last Updated: 1 Jul 2013

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Propionic acidemia: clinical course and outcome in 55 pediatric and adolescent patients.
 

Author(s): Sarah C Grünert, Stephanie Müllerleile, Linda De Silva, Michael Barth, Melanie Walter, Kerstin Walter, Thomas Meissner, Martin Lindner, Regina Ensenauer, René Santer, Olaf A Bodamer, Matthias R Baumgartner, Michaela Brunner-Krainz, Daniela Karall, Claudia Haase, Ina Knerr, Thorsten Marquardt, Julia B Hennermann, Robert Steinfeld, Skadi Beblo, Hans-Georg Koch, Vassiliki Konstantopoulou, Sabine Scholl-Bürgi, Agnes van Teeffelen-Heithoff, Terttu Suormala, Wolfgang Sperl, Jan P Kraus, Andrea Superti-Furga, Karl Otfried Schwab, Jörn Oliver Sass

Journal:

 

Propionic acidemia is an inherited disorder caused by deficiency of propionyl-CoA carboxylase. Although it is one of the most frequent organic acidurias, information on the outcome of affected individuals is still limited.

Last Updated: 12 Feb 2013

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Liver transplantation for propionic acidemia in children.
 

Author(s): Roshni Vara, Charles Turner, Helen Mundy, Nigel D Heaton, Mohammed Rela, Giorgina Mieli-Vergani, Mike Champion, Nedim Hadzic

Journal: Liver Transpl.. 2011 Jun;17(6):661-7.

 

Propionic acidemia (PA) is a rare inherited disorder of branched chain amino acid metabolism; despite improvements in conventional medical management, the long-term outcome remains disappointing. Liver transplantation (LT) has been proposed to minimize the risk of further metabolic ...

Last Updated: 27 May 2011

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Propionic acidemia" returned 1 free, full-text review articles on human participants. First 3 results:

Acute management of propionic acidemia.
 

Author(s): Kimberly A Chapman, Andrea Gropman, Erin MacLeod, Kathy Stagni, Marshall L Summar, Keiko Ueda, Nicholas Ah Mew, Jill Franks, Eddie Island, Dietrich Matern, Loren Pena, Brittany Smith, V Reid Sutton, Tiina Urv, Charles Venditti, Anupam Chakrapani

Journal: Mol. Genet. Metab.. 2012 Jan;105(1):16-25.

 

Propionic acidemia or aciduria is an intoxication-type disorder of organic metabolism. Patients deteriorate in times of increased metabolic demand and subsequent catabolism. Metabolic decompensation can manifest with lethargy, vomiting, coma and death if not appropriately treated. ...

Last Updated: 9 Jan 2012

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Symptoms, Diagnosis, and Treatment

There are currently no related results available in GeneReviews.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

Long-term Outcome of N-Carbamylglutamate Treatment in Propionic Acidemia and Methylmalonic Acidemia
 

Status: Recruiting

Condition Summary: Propionic Acidemia (PA); Methylmalonic Acidemia (MMA)

 

Last Updated: 19 Jun 2014

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Short-term Outcome of N-Carbamylglutamate in the Treatment of Acute Hyperammonemia
 

Status: Recruiting

Condition Summary: Propionic Acidemia (PA); Methylmalonic Acidemia (MMA); Late-onset CPS1 Deficiency (CPSD); Late-onset Ornithine Transcarbamylase Deficiency (OTCD)

 

Last Updated: 24 Nov 2014

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Pilot Study For Hypothermia Treatment In Hyperammonemic Encephalopathy In Neonates And Very Young Infants
 

Status: Recruiting

Condition Summary: Urea Cycle Disorders; Organic Acidemias

 

Last Updated: 29 Sep 2014

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