Clinical Genetics of Prolidase Deficiency: An Updated Review
Marta Spodenkiewicz,
Michel Spodenkiewicz,
Maureen Cleary,
Marie Massier,
Giorgos Fitsialos,
Vincent Cottin,
Guillaume Jouret,
Céline Poirsier,
Martine Doco-Fenzy,
Anne-Sophie Lèbre
Affiliations
Marta Spodenkiewicz
Service de génétique, AMH2, CHU Reims, UFR de médecine, 51100 Reims, France
Michel Spodenkiewicz
CESM—Pôle de Santé Mentale, CRIA, CIC-EC 1410 CHU de La Réunion, 97448 Saint-Pierre CEDEX, La Réunion, France
Maureen Cleary
Great Ormond Street Hospital NHS Foundation Trust and NIHR Biomedical Research Centre, London WC1N 3JH, UK
Marie Massier
Service de génétique, AMH2, CHU Reims, UFR de médecine, 51100 Reims, France
Giorgos Fitsialos
The European Center for Genetics and DNA Identification, DNAlogy. 98 Vouliagmenis Ave. Glyfada, 16674 Athens, Greece
Vincent Cottin
Department of Respiratory Medicine, National Reference Coordinating Center for Rare Pulmonary Diseases, Louis Pradel Hospital, Hospices Civils de Lyon, Lyon, France; Claude Bernard University, Lyon 1, UMR754, IVPC, F-69008 Lyon, France
Guillaume Jouret
National Center of Genetics—Laboratoire National de Santé, L-3555 Dudelange, Luxembourg
Céline Poirsier
Service de génétique, AMH2, CHU Reims, UFR de médecine, 51100 Reims, France
Martine Doco-Fenzy
Service de génétique, AMH2, CHU Reims, UFR de médecine, 51100 Reims, France
Anne-Sophie Lèbre
SFR CAP SANTE, UFR de médecine, 51100 Reims, France
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.
