Propionic Acidemia Research

Propionic Acidemia is a rare disorder with an estimated incidence of 1:35,000 – 1:70,000 births.   There are over 70 identified gene mutations that can cause PA.  Different mutations lead to different amounts of enzyme activity.   The amount of enzyme activity determines the body’s ability to break down parts of protein and certain fats.   This combined with the individual gene make-up of each person means that each affected individual will have an individualized treatment plan and diet.   It also means that the cure may vary depending on the mutation.

Research is critical to gathering more information on PA and how it effects the body and organs.   In order to encourage new research and help continue funding current researchers, funds are needed for both basic research in the laboratory and clinical research on the individuals.    Long term studies are needed to track how PA effects the various organs in the body.

There is a lot to be done…. If you are interested in becoming more involved with PAF, please contact us at [email protected]