Prolidase Deficiency is an autosomal recessive condition, caused by two mutations in the PEPD gene. This gene provides instructions for making the enzyme prolidase. Prolidase helps divide, or breakdown, certain molecules. By breaking down these molecules, prolidase helps make them available for use in producing proteins that the body needs.
Prolidase is also involved in the final step of the breakdown of some proteins obtained through your diet or from your body. Prolidase is specifically important in the breakdown of collagens, which are a type of protein. Collagens are an important part of connective tissues, such as skin, bone, cartilage, tendons, and ligaments. Collagen breakdown is important in order to maintain the integrity of your connective tissue.
At conception, each sibling of an affected individual has a 25% chance of being affected, a 50% chance of being an asymptomatic carrier, and a 25% chance of being unaffected and not a carrier. Carrier testing for at-risk relatives and prenatal testing for pregnancies at increased risk are possible if the PEPD mutations present in the family have been identified. Genetic testing is available for individuals suspected of being affected with Prolidase Deficiency.