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

Generation and characterization of a human iPSC line from a patient with propionic acidemia due to defects in the PCCA gene.
 

Author(s): Esmeralda Alonso-Barroso, Sandra Brasil, Álvaro Briso-Montiano, Rosa Navarrete, Celia Pérez-Cerdá, Magdalena Ugarte, Belén Pérez, Lourdes R Desviat, Eva Richard

Journal: Stem Cell Res. 2017 08;23():173-177.

 

Human induced pluripotent stem cell (iPSC) line was generated from fibroblasts of a patient with propionic acidemia carrying mutations in the PCCA gene: c.1899+4_1899+7delAGTA; p.(Cys616_Val633del) and c.1430--?_1643+?del; p.(Gly477Glufs*9). Reprogramming factors OCT3/4, SOX2, KLF4 ...

Last Updated: 31 Dec 1969

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Simultaneous determination of 3-hydroxypropionic acid, methylmalonic acid and methylcitric acid in dried blood spots: Second-tier LC-MS/MS assay for newborn screening of propionic acidemia, methylmalonic acidemias and combined remethylation disorders.
 

Author(s): Péter Monostori, Glynis Klinke, Sylvia Richter, Ákos Baráth, Ralph Fingerhut, Matthias R Baumgartner, Stefan Kölker, Georg F Hoffmann, Gwendolyn Gramer, Jürgen G Okun

Journal:

 

Increased propionylcarnitine levels in newborn screening are indicative for a group of potentially severe disorders including propionic acidemia (PA), methylmalonic acidemias and combined remethylation disorders (MMACBL). This alteration is relatively non-specific, resulting in the ...

Last Updated: 31 Dec 1969

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Antenatal nephromegaly and propionic acidemia: a case report.
 

Author(s): Ségolène Bernheim, Georges Deschênes, Manuel Schiff, Isabelle Cussenot, Olivier Niel

Journal:

 

Propionic acidemia (PA) is a rare but severe recessive autosomal disease, presenting with non specific signs in the first years of life. Prenatal diagnosis is invasive (amniocentesis) and limited to suspect cases. No screening test has been described, in particular no correlations ...

Last Updated: 31 Dec 1969

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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: 31 Dec 1969

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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: 31 Dec 1969

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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: 23 May 2018

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

Status: Recruiting

Condition Summary: Metabolic Disease

 

Last Updated: 31 Jul 2018

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"The MaP Study": Mapping the Patient Journey in MMA and PA
 

Status: Recruiting

Condition Summary: Methylmalonic Acidemia; Propionic Acidemia

 

Last Updated: 24 Jul 2018

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