A rare case of prolidase deficiency with situs inversus totalis, identified by a novel mutation in the PEPD gene

Abstract

Prolidase deficiency (PD) is a rare inherited autosomal recessive disorder of amino acid metabolism with an incidence of 1 to 2 for every one million.1, 2 First described in 1968,1 PD is caused by many different types of mutations in the peptidase D (PEPD) gene encoding prolidase, an enzyme that breaks down iminodipeptides containing proline and hydroxyproline.3 To date, 29 different mutations have been detected in this gene.4 Here we present a 20-year-old man with PD diagnosed through PEPD gene analysis. To our knowledge, the novel mutation detected in this case has never been reported. Therefore, our case provides important genetic information pertaining to PD.