Zellweger Syndrome Disorders: From Severe Neonatal Disease to Atypical Adult Presentation

Overview

Journal Adv Exp Med Biol

Specialties Biology
General Medicine

Date 2021 Jan 8

PMID 33417208

Citations 5

Authors

David Cheillan

Affiliations

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Abstract

Zellweger syndrome disorders (ZSD) is the principal group of peroxisomal disorders characterized by a defect of peroxisome biogenesis due to mutations in one of the 13 PEX genes. The clinical spectrum is very large with a continuum from antenatal forms to adult presentation. Whereas biochemical profile in body fluids is classically used for their diagnosis, the revolution of high-throughput sequencing has extended the knowledge about these disorders. The aim of this review is to offer a large panorama on molecular basis, clinical presentation and treatment of ZSD, and to update the diagnosis strategy of these disorders in the era of next-generation sequencing (NGS).

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