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: 12 Jul 2016

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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: 28 May 2015

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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: 12 Jul 2016

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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: 28 May 2015

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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 34 free, full-text research articles on human participants. First 3 results:

Long QTc Syndrome and Propionic Acidemia.
 

Author(s): Moises Rodriguez-Gonzalez, Ana Castellano-Martinez

Journal: Indian Pediatr. 2016 Sep;53(9):841.

 

Last Updated: 23 Oct 2016

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Recapitulation of metabolic defects in a model of propionic acidemia using patient-derived primary hepatocytes.
 

Author(s): Kimberly A Chapman, Maria S Collado, Robert A Figler, Stephen A Hoang, Allison J Armstrong, Wanxing Cui, Michael Purdy, Michael B Simmers, Nada A Yazigi, Marshall L Summar, Brian R Wamhoff, Ajit Dash

Journal: Mol. Genet. Metab.. 2016 Mar;117(3):355-362.

 

Propionic acidemia (PA) is a disorder of intermediary metabolism with defects in the alpha or beta subunits of propionyl CoA carboxylase (PCCA and PCCB respectively) enzyme. We previously described a liver culture system that uses liver-derived hemodynamic blood flow and transport ...

Last Updated: 11 Mar 2016

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Reversal of cardiomyopathy in propionic acidemia after liver transplantation: a 10-year follow-up.
 

Author(s): Chiara Arrizza, Andrea De Gottardi, Ezio Foglia, Matthias Baumgartner, Matthias Gautschi, Jean-Marc Nuoffer

Journal: Transpl. Int.. 2015 Dec;28(12):1447-50.

 

Cardiomyopathy is a frequent complication in propionic acidemia. It is mostly rapidly fatal and independent of the metabolic control or medical intervention. Here, we present the reversal of a severe cardiomyopathy after liver transplantation in a patient with propionic acidemia and ...

Last Updated: 18 Jan 2016

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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 2 free, full-text review articles on human participants. First 3 results:

Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia.
 

Author(s): Matthias R Baumgartner, Friederike Hörster, Carlo Dionisi-Vici, Goknur Haliloglu, Daniela Karall, Kimberly A Chapman, Martina Huemer, Michel Hochuli, Murielle Assoun, Diana Ballhausen, Alberto Burlina, Brian Fowler, Sarah C Grünert, Stephanie Grünewald, Tomas Honzik, Begoña Merinero, Celia Pérez-Cerdá, Sabine Scholl-Bürgi, Flemming Skovby, Frits Wijburg, Anita MacDonald, Diego Martinelli, Jörn Oliver Sass, Vassili Valayannopoulos, Anupam Chakrapani

Journal:

 

Methylmalonic and propionic acidemia (MMA/PA) are inborn errors of metabolism characterized by accumulation of propionic acid and/or methylmalonic acid due to deficiency of methylmalonyl-CoA mutase (MUT) or propionyl-CoA carboxylase (PCC). MMA has an estimated incidence of ~ 1: ...

Last Updated: 27 Oct 2014

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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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Clinical Trial Information This information is provided by ClinicalTrials.gov

Review of Charts From Amish/Mennonite Variant PA Patients
 

Status: Recruiting

Condition Summary: Propionic Acidemia

 

Last Updated: 17 May 2017

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Natural History, Physiology, Microbiome and Biochemistry Studies of Propionic Acidemia
 

Status: Recruiting

Condition Summary: Metabolic Disease

 

Last Updated: 30 Jun 2017

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

Status: Recruiting

Condition Summary: Propionic Acidemia, Type I and/or Type II; Methylmalonic Acidemia; Carbamoyl-Phosphate Synthase I Deficiency Disease; Ornithine Carbamoyltransferase Deficiency

 

Last Updated: 4 Apr 2017

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