Propionic acidemia

Common Name(s)

Propionic acidemia, Ketotic glycinemia, PCC deficiency

Propionic acidemia (PROP) is a rare genetic condition. PROP results from a mutation or error in a person’s DNA or genes. Due to this mistake, people with PROP have problems with breaking down certain fats properly. PROP occurs when the body does not make enough or makes non-working PROP enzyme, propionyl-CoA carboxylase (PCC). Enzymes are special proteins that help break down the food we eat into the pieces our body can use for energy. In this case, the job of the PCC enzyme is to break down the amino acids isoleucine, valine, methionine, and threonine and a type of fat called odd-chain fats. Those with PROP can’t use these materials for energy because they can't be broken down. This also causes a build-up of too many unused odd-chain fatty acids and amino acids, which can be harmful to the body.

Those affected by PROP can show symptoms usually within a few days after birth. Symptoms may include sleeping longer or more than usual, tiredness, vomiting, poor appetite, and weak muscle tone (hypotonia). If untreated, individuals are at risk for developing learning disabilities and developmental delays. Many of these complications can be prevented with early detection and lifelong management with a special diet and appropriate supplements. Many babies are screened for PROP at birth so that treatment can begin early, however the conditions included in newborn screening differ from state to state. For more information, visit Baby’s First Test. PROP is an autosomal recessive trait. A genetic counselor can help you understand the genetics. Talk with your doctor and specialists to decide on the best treatment plan. Support groups are also a good source of information.

Source: Advocacy organizations associated with the condition.

 

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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General Support Organizations

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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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General Support Organizations

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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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