Propionic Acidemia Foundation
“Searching for a Cure…Hope for our Children”
The Propionic Acidemia Foundation
Number of operating years for PAF
Dollars in grant money distributed to fund research for PA
Research studies currently being funded
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PO Box 151
Deerfield, IL 60015-4421
paf@pafoundation.com
Meet Our Medical Advisory Board
Gerard T. Berry M.D., Children’s Hospital Boston 2003-present
For over 20 years, Dr. Berry has held major teaching and clinical positions in pediatrics and metabolism primarily at University Of Pennsylvania, CHOP, George Washington University and most recently at Children’s Hospital Boston. As a recognized expert in inborn errors of metabolism and endocrinology, Dr. Berry is the author of and invited lecturer on topics ranging from hyperammonemia, MSUD and galactosemia to metabolism of inositol in the brain. He has served as principal investigator for numerous research studies and has received numerous NIH grants for his work with galactosemia. Dr. Berry has been an active proponent of expanded newborn screening and serves on several advisory boards and international committees. In 2006, Dr. Berry joined Children’s Hospital Boston as the Director of the Metabolism Program.
William Nyhan, M.D., PH.D., UCSD School of Medicine, La Jolla, California 2003- present
Dr. William Nyhan is currently Professor of Pediatrics at UCSD School of Medicine in La Jolla, Ca. He has held appointments at University of Miami School of Medicine, Johns Hopkins University School of Medicine and has served on numerous pediatric advisory boards, advisory committees and research foundations. A lifetime of interests and areas of research span a wide variety of disorders of amino acid, organic acid and purine metabolism, including alkaptonuria, 4-hydroxybutyric aciduria, 3-methylglutaconyl-Co A hydratase deficiency, multiple carboxylase deficiency, methylmalonic acidemia, propionic acidemia, and Lesch-Nyhan syndrome. Dr. Nyhan has studied the neuropathology of propionic acidemia including the manifestation of basal ganglia infarction and the neurologic non-metabolic presentation of PA. He is currently involved in the ongoing development of tandem mass spectrometry for use in diagnosis and research.
Barbara K. Burton, M.D., Northwestern University Medical School and Ann & Robert H. Lurie Children’s Hospital of Chicago, Chicago, IL 2003-present
Dr. Burton is a Professor of Pediatrics at the Northwestern University Feinberg School of Medicine and an Attending Physician in the Division of Genetics, Birth Defects and Metabolism at the Ann & Robert H. Lurie Children’s Hospital of Chicago. She is a Board-certified biochemical geneticist and has contributed numerous articles to the medical literature related to inborn errors of metabolism She is active in clinical research and has been an investigator in many clinical trials of new therapies for metabolic disorders. In addition, she has served for many years as Chairman of the Newborn Screening Advisory Committee of the Illinois Dept. of Public Health. Dr. Burton is particularly interested in educating physicians on the recognition of early symptoms of metabolic disorders.
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Submission Deadline: October 1, 2024
Awards announcement: January 15, 2025
Primary Research Mission
PAF is a non-profit organization whose primary mission is to help advance research devoted to finding treatments and a cure for propionic acidemia. By funding research, we aim to accelerate new knowledge, discovery, development and/or evaluation of therapeutics leading to better treatment and a cure for all individuals affected by PA.
Propionic Acidemia FAQs
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What is Propionic Acidemia?
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What is the treatment for Propionic Acidemia?
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How is Propionic Acidemia diagnosed?
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What is comprehensive newborn screening?
Propionic Acidemia (PA) 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 either a missing or a non-functioning enzyme called PCC. This inability causes a build-up of harmful substances which can cause damage to the person’s heart, liver, brain, and bones. The result can be seizures, delays to normal development like walking and talking, and other health problems. During times of illness the individual with PA may need to be hospitalized to prevent breakdown of proteins within his/her body.
Individuals with PA cannot break down parts of protein and some types of fat due to either a missing or a non-functioning enzyme called PCC. This inability causes a build-up of harmful substances which can cause damage to the person’s heart, liver, brain, and bones. The result can be seizures, delays to normal development like walking and talking, and other health problems. During times of illness the individual with PA may need to be hospitalized to prevent breakdown of proteins within his/her body.
Every day an individual with propionic acidemia walks a metabolic tightrope of getting enough protein for normal growth and development and getting too much protein causing instability. Dietary restriction of total protein, the four offending amino acids (valine, isoleucine, methionine and threonine), and odd-chained fats is the treatment. This is given through a carefully calculated metabolic formula determined by your doctor and nutritionist. The diet is also supplemented with levocarnitine to help remove toxic metabolites. Although some PA children learn to eat, most require gastronomy tube feedings since they have little to no appetite and food aversions.
Most states provide comprehensive newborn screening (CNBS) for Propionic Acidemia. Potential late onset cases can be identified using this type of testing. Such cases are verified through additional blood and urine tests. Diagnosis of acute onset cases is typically made in the intensive care unit when newborns go into a metabolic crisis within the first few days of life.
If the baby isn’t screened at birth, late onset cases may present themselves throughout the first few months of life with failure to thrive, vomiting, trouble feeding, and/or low muscle tone. If the symptoms aren’t addressed, late onset cases are usually diagnosed in the ER after a traumatic metabolic crisis. Early detection and treatment of propionic acidemia can potentially improve the prognosis of the affected individual.
If the baby isn’t screened at birth, late onset cases may present themselves throughout the first few months of life with failure to thrive, vomiting, trouble feeding, and/or low muscle tone. If the symptoms aren’t addressed, late onset cases are usually diagnosed in the ER after a traumatic metabolic crisis. Early detection and treatment of propionic acidemia can potentially improve the prognosis of the affected individual.
Comprehensive newborn screening is a simple blood test where a heel prick is performed on the baby to get a few drops of blood. The test should be done 24-48 hours after birth. The test is used to identify many life-threatening genetic disorders including Propionic Acidemia. Each state determines which disorders are included in their newborn screening panel. If your state does not screen for Propionic Acidemia, you can have your child tested through an independent laboratory.