Clinical Genetics of Prolidase Deficiency: An Updated Review - Archive ouverte HAL Access content directly
Journal Articles Biology Year : 2020

Clinical Genetics of Prolidase Deficiency: An Updated Review

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Maureen Cleary
  • Function : Author
  • PersonId : 1114997
Marie Massier
  • Function : Author
  • PersonId : 1114998
Giorgos Fitsialos
  • Function : Author
  • PersonId : 1114999
Vincent Cottin
  • Function : Author
  • PersonId : 1136807
Guillaume Jouret
  • Function : Author
  • PersonId : 1115000
Céline Poirsier
  • Function : Author
  • PersonId : 1115001

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.
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Dates and versions

hal-03405955 , version 1 (27-10-2021)

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Attribution - CC BY 4.0

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Marta Spodenkiewicz, Michel Spodenkiewicz, Maureen Cleary, Marie Massier, Giorgos Fitsialos, et al.. Clinical Genetics of Prolidase Deficiency: An Updated Review. Biology, 2020, 9, ⟨10.3390/biology9050108⟩. ⟨hal-03405955⟩
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