WHAT IS PROPIONIC ACIDEMIA?

PA is also known as Propionic Acidemia
(Propionyl-CoA Carboxylase Deficiency)

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 disease. It takes two faulty genes to cause PA, so there is a 1 in 4 chance for these parents to have a child with PA.

Individuals with PA can not break down parts of protein and some types of fat due to a non-functioning enzyme called PCC. Without the enzyme propionyl CoA carboxylase, four essential amino acids in protein (isoleucine, valine, threonine, and methionine) are only partially processed. Too much protien causes propionic acid to build-up in the bloodstream. This in turn causes a build-up of dangerous acids and toxins, which can cause damage to the person’s organs. In many cases, PA can damage the brain, heart, and liver, cause seizures, and delays to

normal development like walking and talking. During times of illness the affected person may need to be hospitalized to prevent breakdown of proteins within his/her body. Each meal presents a challenge to those with PA. If not constantly monitored, the effects would be devastating. Dietary needs must be closely managed by a metabolic geneticist or metabolic dietician.

 

NEWBORN SCREENING
If you live in the United States, you've probably heard of Expanded Newborn Screening, where the hospital of a baby's birth gets a blood sample via heel stick to test for potential inborn disorders. PA is 1 of 30 rare inherited metabolic disorders screened through this process. However, most states do no screen for all 30 disorders. In Ohio, Expanded Newborn Screening included PA beginning 2003. Since then, PA diagnosis has been confirmed in approximately 1 of 70,000 live births. http://www.savebabies.org/ 

http://www.savebabies.org/

 

PA IN A NUTSHELL BY DR. GREENE
“Children need protein in order to grow and thrive, but for these children extra protein is a deadly poison. Here's the problem: The amount they need to grow is a little more than the amount they can handle. Each meal becomes a delicate balancing act that can make the difference between normal development and long-term disability." http://www.drgreene.org/blank.cfm?print=yes&id=21&action=detail&ref=692