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]

Previously awarded project titles:

  • Detailed cardiac functional and electrical phenotyping in Propionic Acidemia
  • Aberrant protein propionylation and distinct histone marks in propionic acidemia: new disease mechanisms and risk factors for cardiac disease
  • Substrate reduction as a novel therapeutic strategy for propionic acidemia
  • Chemical Chaperone Treatment to Restore Enzyme Activity in Folding Mutations of Propionyl-Co-A Carboxylase: Towards a Personalized Therapeutic Strategy in Propionic Acidemia (PA)
  • Optimizing amino acids in medical foods to manage propionic acidemia
  • Propionyl-CoA and propionylcarnitine mediate cardiac complications in patients with propionic acidemia
  • Cardiomyocytes derived from induced pluripotent stem cells as a new model for therapy development in propionic acidemia
  • Diversion of Isoleucine and Valine Oxidative Pathway to Reduce the Propionogenic Load in Propionic Acidemia
  • Serine and Thiol Metabolism in Propionic Acidemia
  • Novel RX for propionic acidemia
  • Enzyme Replacement Therapy for Propionic Acidemia
  • Genotype-phenotype correlations in propionic acidemia
  • Crystallization and structure determination of human propionyl CoA carboxylase
  • Neurologic Phenotypes and Therapy in Propionic Acidemia Mice
  • Feasibility of translating gene therapy for propionyl CoA carboxylase (PCCA) deficiency
  • Biomarkers for Neurological Injury in Propionic Acidemia
  • Gene Expression Profiles of Patients with Propionic Acidemia and their Carrier Parents
  • Is there energy deficiency in Propionic Acidemia?
  • Impact of propionic acidemia on brain astrocytes: an in vitro model to test mitochondrial therapy in PA
  • A prospective study of biochemical parameters reflective of metabolic control in propionic acidemia


    More information on the grant process.