Propionic Acidemia

Propionic Acidemia (PROP)
An Organic Acid Disorder

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What is it?

This disorder frequently results in catastrophic illness beginning in the newborn period.

Inheritance and Frequency
The gene defect for PA is an autosomal recessive genetic trait and is unknowingly passed down from generation to generation. This faulty gene usually emerges when two carriers have children together and pass it to their offspring. For each pregnancy of two such carriers, there is a 25% chance that the child will be born with the disease and a 50% chance the child will be a carrier for the gene defect.

PA occurs in approximately 1 in 100,000 live births in the United States.

Signs & Symptoms
Symptoms of PA can include protein intolerance, vomiting, failure to thrive, lethargy, and profound metabolic acidosis.

Long Term Effects
If not treated early, brain damage, including coma and generalized seizures, and death can occur.

Treatment
Treatment for PA usually includes dietary protein restriction and often calls for supplementation by medical foods. Fluids and electrolyte therapy may be needed by some individuals. In addition, acidosis can be resolved by sodium bicarbonate or dialysis. In some individuals, secondary carnitine deficiency is likely to occur, requiring supplementation.

History

Screening
Visit the What Does Your State Screen page to learn about your state's newborn screening program.

Supplemental Screening
If you live in a state that does not perform screening on its newborns for all detectable disorders, there are laboratories that will provide this screening for you no matter your state of residence. For more information about supplemental screening, visit our supplemental screening page. Also visit our frequently asked questions page for more information on newborn screening.

Other Sites of Reference

Support Groups

Organic Acidemia Association
13210 35th Avenue
Plymouth, MN 55441
Contact Person: Kathy Stagni
Phone: 763-559-1797
Email: Contact OAA

Propionic Acidemia Foundation
1963 McCraren
Highland Park, IL 60035
Contact Person: Jill Chertow Franks, President
Phone toll-free: 877-720-2192
Email: Contact PA Foundation

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Revised 02/05/2007