Clinical Genetics of Prolidase Deficiency: An Updated Review.

Marta Spodenkiewicz,Guillaume Jouret,Giorgos Fitsialos,Anne-Sophie Lèbre,Vincent Cottin,Marie Massier,Céline Poirsier,Michel Spodenkiewicz,Maureen Cleary,Martine Doco-Fenzy

doi:10.3390/biology9050108

Abstract

Prolidase is a ubiquitous enzyme that plays a major role in the metabolism of proline-rich proteins. Prolidase deficiency is a rare autosomal recessive inborn metabolic and multisystemic disease, characterized by a protean association of symptoms, namely intellectual disability, recurrent infections, splenomegaly, skin lesions, auto-immune disorders and cytopenia. To our knowledge, no published review has assembled the different clinical data and research studies over prolidase deficiency. The aim of this study is to summarize the actual state of the art from the descriptions of all the patients with a molecular diagnosis of prolidase deficiency reported to date regarding the clinical, biological, histopathological features, therapeutic options and functional studies.

Highlights

Prolidase is a ubiquitous cytosolic dipeptidase that liberates proline or hydroxyproline in the final stage of endogenous and dietary protein catabolism
We summarize the actual state of the art from the descriptions of all the reported patients with a molecular diagnosis of prolidase deficiency (PD) and report a new splicing variant c.1344 + 2T > A in PEPD
The PubMed search strategy used a combination of medical subject heading (MeSH) terms and text keywords: prolidase and/or PEPD gene and prolidase deficiency

Summary

Introduction

Prolidase is a ubiquitous cytosolic dipeptidase that liberates proline or hydroxyproline in the final stage of endogenous and dietary protein catabolism.

Objectives

Methods

Results

Conclusion