What is Propionic Acidemia (PA)?
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 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 a non-functioning enzyme called PCC. This inability causes a build-up of dangerous acids and toxins, which can cause damage to the person’s organs. PA can also damage the brain, heart and liver, cause seizures, and delays to normal development like walking and talking. During times of illness the individual with PA may need to be hospitalized to prevent breakdown of proteins within his/her body.
