Clinical Genetics of Prolidase Deficiency: An Updated Review
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...
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| Format: | Article |
| Language: | English |
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MDPI AG
2020-05-01
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| Series: | Biology |
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| Online Access: | https://www.mdpi.com/2079-7737/9/5/108 |
| _version_ | 1797567337991241728 |
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| author | Marta Spodenkiewicz Michel Spodenkiewicz Maureen Cleary Marie Massier Giorgos Fitsialos Vincent Cottin Guillaume Jouret Céline Poirsier Martine Doco-Fenzy Anne-Sophie Lèbre |
| author_facet | Marta Spodenkiewicz Michel Spodenkiewicz Maureen Cleary Marie Massier Giorgos Fitsialos Vincent Cottin Guillaume Jouret Céline Poirsier Martine Doco-Fenzy Anne-Sophie Lèbre |
| author_sort | Marta Spodenkiewicz |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-03-10T19:40:18Z |
| format | Article |
| id | doaj.art-085fe8248c5742c1bd5b2e8bd5fd0e4f |
| institution | Directory Open Access Journal |
| issn | 2079-7737 |
| language | English |
| last_indexed | 2024-03-10T19:40:18Z |
| publishDate | 2020-05-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | Biology |
| spelling | doaj.art-085fe8248c5742c1bd5b2e8bd5fd0e4f2023-11-20T01:14:03ZengMDPI AGBiology2079-77372020-05-019510810.3390/biology9050108Clinical Genetics of Prolidase Deficiency: An Updated ReviewMarta Spodenkiewicz0Michel Spodenkiewicz1Maureen Cleary2Marie Massier3Giorgos Fitsialos4Vincent Cottin5Guillaume Jouret6Céline Poirsier7Martine Doco-Fenzy8Anne-Sophie Lèbre9Service de génétique, AMH2, CHU Reims, UFR de médecine, 51100 Reims, FranceCESM—Pôle de Santé Mentale, CRIA, CIC-EC 1410 CHU de La Réunion, 97448 Saint-Pierre CEDEX, La Réunion, FranceGreat Ormond Street Hospital NHS Foundation Trust and NIHR Biomedical Research Centre, London WC1N 3JH, UKService de génétique, AMH2, CHU Reims, UFR de médecine, 51100 Reims, FranceThe European Center for Genetics and DNA Identification, DNAlogy. 98 Vouliagmenis Ave. Glyfada, 16674 Athens, GreeceDepartment 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, FranceNational Center of Genetics—Laboratoire National de Santé, L-3555 Dudelange, LuxembourgService de génétique, AMH2, CHU Reims, UFR de médecine, 51100 Reims, FranceService de génétique, AMH2, CHU Reims, UFR de médecine, 51100 Reims, FranceSFR CAP SANTE, UFR de médecine, 51100 Reims, FranceProlidase 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.https://www.mdpi.com/2079-7737/9/5/108prolidase deficiency<i>PEPD</i> genesystematic review |
| spellingShingle | Marta Spodenkiewicz Michel Spodenkiewicz Maureen Cleary Marie Massier Giorgos Fitsialos Vincent Cottin Guillaume Jouret Céline Poirsier Martine Doco-Fenzy Anne-Sophie Lèbre Clinical Genetics of Prolidase Deficiency: An Updated Review Biology prolidase deficiency <i>PEPD</i> gene systematic review |
| title | Clinical Genetics of Prolidase Deficiency: An Updated Review |
| title_full | Clinical Genetics of Prolidase Deficiency: An Updated Review |
| title_fullStr | Clinical Genetics of Prolidase Deficiency: An Updated Review |
| title_full_unstemmed | Clinical Genetics of Prolidase Deficiency: An Updated Review |
| title_short | Clinical Genetics of Prolidase Deficiency: An Updated Review |
| title_sort | clinical genetics of prolidase deficiency an updated review |
| topic | prolidase deficiency <i>PEPD</i> gene systematic review |
| url | https://www.mdpi.com/2079-7737/9/5/108 |
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