Clinical Genetics of Prolidase Deficiency: An Updated Review.
Fiche publication
Date publication
mai 2020
Journal
Biology
Auteurs
Membres identifiés du Cancéropôle Est :
Pr LEBRE Anne-Sophie
Tous les auteurs :
Spodenkiewicz M, Spodenkiewicz M, Cleary M, Massier M, Fitsialos G, Cottin V, Jouret G, Poirsier C, Doco-Fenzy M, Lèbre AS
Lien Pubmed
Résumé
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.
Mots clés
PEPD gene, prolidase deficiency, systematic review
Référence
Biology (Basel). 2020 May 21;9(5):