Prolidase Deficiency is a genetic condition caused by mutations in the PEPD gene in which patients have chronic and painful skin ulcers, usually on the feet, recurrent infections, chronic lung disease, clubbing of the fingers, developmental delay, and enlarged liver and spleen. Approximately 100 affected individuals have been reported to date.
Prolidase Deficiency is inherited in an autosomal recessive manner. 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.