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Propionic Acidemia Foundation

The Propionic Acidemia Foundation is a non-profit organization dedicated to finding improved treatments and a cure for Propionic Acidemia by funding research and providing information and support to families and medical professionals.  Join Us in our vision to create a future where Propionic Acidemia can be prevented and any affected individual can be cured and live a productive life.

News and Announcements

NEW: The PA Registry provides a way for PA patients and families worldwide to improve the understanding of the disorders and accelerate research by reporting information about how the disorder affects them.  The Registry is itself an IRB-approved research project and the data collected will help characterize the condition of people living with PA. You can find out more on

NEW April 2014:  PAF awards a $28,697 continuation grant to Dr. Loren Pena on her study titled: "A prospective study of biochemical parameters reflective of metabolic control in propionic acidemia".    Click here for more information on the study and how to participate.   The study is still recruiting.

NEW:  Congratulations to the 2014 Board of Directors - we are looking forward to a great year.  Please email if you would like to become more involved.

NEW:  Flu Season is here:  Download this pdf on Flu and Inborn Errors of Metabolism

NEW:  2013 PAF Education Conference Presentations are available.

New Article: Mol Ther. 2013 May 7. doi: 10.1038/mt.2013.68. [Epub ahead of print] Generation of a Hypomorphic Model of Propionic Acidemia Amenable to Gene Therapy Testing.  Guenzel AJ, Hofherr SE, Hillestad M, Barry M, Weaver E, Venezia S, Kraus JP, Matern D, Barry MA.

April 2013:  PAF awards $28,898 2nd year grant to Dr. Jan Kraus, Ph.D. and Sarah Venezia, M.S. Univesity of Colorado Denver for project titled:  "Enzyme Replacement Therapy for Propionic Acidemia."

March 2013:  PAF awards $27,000 2nd year grant to Marisa Cotrina, Ph.D. University of Rochester, Rochester, NY for her study titled: "The impact of pa on brain astrocytes: an in vitro model to test mitochondrial therapy in PA".

The NIH MINI Study: Metabolism Infection and Immunity in Inborn Errors of Metabolism ( is an exciting new study at the NIH Clinical Center ( The main goal of the study is to learn about the function of the immune system in metabolic disorders, especially OAs.  (click title for more information)

Flu Season is here:  Download this pdf on Flu and Inborn Errors of Metabolism

Past Newsletters are available on the Sites of Interest Page.  Please submit stories by August 15th for the Fall 2013 Newsletter to  If your contact information has changed, please update at 

PAF awarded a $5000 grant to the Clinic for Special Children for a PA Workshop Titled:  "The Biochemical Basis fo Keto-Acidemia, Encephalopathy, Metabolic Strokes, Heart Failure & Long QTc, and a Discussion of Current Therapies"  - Friday, September 14, 2012  

PA Consensus Meeting Publishes 5 articles on PAClick this link. 

Join the PAF Pounding the Pavement for PA team or start your own!  Run in any race, around your block, or become a "virtual runner" Contact Brittany Smith for more information at .  Check out events to follow our progress. 

August 2010 PAF Education Conference now available  This is a great resource for anyone interested in learning more about Propionic Acidemia.   More information on this project can be found on Page 7 of the Spring 2011 Newsletter.

Propionic Acidemia Foundation  Conference Player

Click to view!!!

Your contribution is tax-deductible.   Check donations may be made to PAF by printing our donation form.

Download the PAF Brochure.





Propionic Acidemia Foundation

1963 McCraren Rd.

Highland Park, IL 60035

U.S. Toll Free 1-877-720-2192

  The Propionic Acidemia Foundation is a non-profit 501(c)3 organization.

This website is maintained by PAF. Questions or comments can be directed to

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