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What is Propionic Acidemia (PA)?
Propionic Acidemia is a rare disorder that is inherited from both parents. Neither parent shows symptoms, but both carry a defective gene responsible for this disorder. It takes two faulty genes to cause PA.
Individuals with PA cannot break down parts of protein and some types of fat due to a non-functioning enzyme called PCC. This inability causes a build-up of dangerous acids and toxins, which can cause damage to the person’s organs. PA can also damage the brain, heart and liver, cause seizures, and delays to normal development like walking and talking. During times of illness the individual with PA may need to be hospitalized to prevent breakdown of proteins within his/her body. For more information, see FAQ (Frequently Asked Questions).
Mission
The Propionic Acidemia Foundation is dedicated to finding improved treatments and a cure for Propionic Acidemia by funding research and providing information and support to families and medical professionals.
Research Funded:
2007/2008 - $40,000 new grant to Dr. Jan Kraus
$30,000 new grant to Dr. Jan Kraus
$12,300 continuation grant to Dr. Michael Barry
Annual Report year ending 7/31/08
2006/2007 - $30,000 new grant to Dr. Jon Wolff
$29,996 continuation grant to Dr. Jan Kraus
$22,500 continuation grant to Dr. Michael Barry
Annual Report year ending 7/31/07
2005/2006 - $25,000 new grant to Dr. Jan Kraus
$15,000 continuation grant to Dr. Michael Barry
Annual Report year ending 7/31/06
2004/2005 - $25,000 continuation grant to Dr. Michael Barry
2003/2004 - $10,000 new grant to Dr. Michael Barry
2001/2003 - Raised over $96,000 for UT Southwestern Medical Center
studies by Dr. Toru Miyazaki
For more information on research, click here: research.
Providing Information and support
Attend and Exhibit at National Conferences
Website - links to Parent Guides, nutritional information,
research publications, state resources, etc...
Newsletter sent out twice a year
Annual PA Family Day give families an opportunity to spend time with
other families that are affected by PA in a warm, casual environment.
On line Email Discussion List gives families a chance to ask questions,
give updates, and get support.
Care Notebook for families that can be downloaded
Toll free phone number (US)
Our Vision
To create a future where Propionic Acidemia can be prevented and any affected individual can be cured and live a productive life.
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