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

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Peroxisome Biology: Experimental Models, Peroxisomal Disorders and Neurological Diseases

Part of the book series: Advances in Experimental Medicine and Biology ((AEMB,volume 1299))

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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Authors and Affiliations

  1. Inserm U1060 – CarMeN Laboratory, Lyon University, Pierre-Bénite, France

    David Cheillan

  2. Service Biochimie et Biologie Moléculaire Grand Est – Centre de Biologie Est, Hospices Civils de Lyon, Bron, France

    David Cheillan

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  1. David Cheillan
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Correspondence to David Cheillan .

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Editors and Affiliations

  1. Team ‘Biochemistry of the Peroxisome, Inflammation and Lipid Metabolism’ EA 7270/University of Bourgogne Franche-Comté/Inserm, Dijon, France

    Gérard Lizard

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Cheillan, D. (2020). Zellweger Syndrome Disorders: From Severe Neonatal Disease to Atypical Adult Presentation. In: Lizard, G. (eds) Peroxisome Biology: Experimental Models, Peroxisomal Disorders and Neurological Diseases. Advances in Experimental Medicine and Biology, vol 1299. Springer, Cham. https://doi.org/10.1007/978-3-030-60204-8_6

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