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Clinical Genetics of Prolidase Deficiency: An Updated 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.

SUBMITTER: Spodenkiewicz M

PROVIDER: S-EPMC7285180 | biostudies-literature | 2020 May

REPOSITORIES: biostudies-literature

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Clinical Genetics of Prolidase Deficiency: An Updated Review.

Spodenkiewicz Marta M Spodenkiewicz Michel M Cleary Maureen M Massier Marie M Fitsialos Giorgos G Cottin Vincent V Jouret Guillaume G Poirsier Céline C Doco-Fenzy Martine M Lèbre Anne-Sophie AS

Biology 20200521 5

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 a ...[more]

PMID: 32455636

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