Year: 2020
Type: review
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.
Source: Biology
Institutions: Inserm, Centre Hospitalier Universitaire de La Réunion, Centre de recherche en Epidémiologie et Santé des Populations, Centre Hospitalier Universitaire de Reims, Université de Reims Champagne-Ardenne, Great Ormond Street Hospital, NIHR Great Ormond Street Hospital Biomedical Research Centre, Lyon 1 Université, Institut National de Recherche pour l'Agriculture, l'Alimentation et l'Environnement, Hospices Civils de Lyon, Hôpital Louis Pradel, Infections Virales et Pathologie Comparée, Laboratoire National de Santé, Pharmacologie et Pathologies Fragilisantes
Language: English
Subfield: Clinical Biochemistry
Domain: Life Sciences
Open Access status: gold
Estimated APC paid: $1,434
OpenAlex ID: W3028513487