Prolidase deficiency: detection of cases by a newborn urinary screening programme

Abstract

Prolidase deficiency is a very rare inborn error of metabolism associated with severe dermatological manifestations and iminodipeptiduria. Previous cases were confirmed on the basis of their phenotype and only recently have been detected by newborn screening. The authors report on their experience related to prolidase deficiency in the newborn period in their Urinary Mass Screening Program of the Quebec Network for Genetic Medicine.