Zellweger spectrum disorders: clinical overview and management approach

Femke C. C. Klouwer¹²^†, Kevin Berendse¹²^†, Sacha Ferdinandusse², Ronald J. A. Wanders², Marc Engelen¹ and Bwee Tien Poll-The¹^*

*Corresponding author: Bwee T Poll-The b.t.pollthe@amc.uva.nl
† Equal contributors

Author Affiliations

¹Department of Paediatric Neurology, Emma Children’s Hospital, Academic Medical Center, University of Amsterdam, Meibergdreef 9, Amsterdam, 1105 AZ, The Netherlands

²Laboratory Genetic Metabolic Diseases, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands

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Orphanet Journal of Rare Diseases 2015, 10:151 doi:10.1186/s13023-015-0368-9

Femke C. C. Klouwer and Kevin Berendse contributed equally to this work.

The electronic version of this article is the complete one and can be found online at:http://www.ojrd.com/content/10/1/151

Received:	19 October 2015
Accepted:	22 November 2015
Published:	1 December 2015

Open AccessThis article is distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated.

Abstract

Zellweger spectrum disorders (ZSDs) represent the major subgroup within the peroxisomal biogenesis disorders caused by defects in PEX genes. The Zellweger spectrum is a clinical and biochemical continuum which can roughly be divided into three clinical phenotypes. Patients can present in the neonatal period with severe symptoms or later in life during adolescence or adulthood with only minor features. A defect of functional peroxisomes results in several metabolic abnormalities, which in most cases can be detected in blood and urine. There is currently no curative therapy, but supportive care is available. This review focuses on the management of patients with a ZSD and provides recommendations for supportive therapeutic options for all those involved in the care for ZSD patients.

Keywords:

Zellweger spectrum disorder; ZSD; Peroxisome biogenesis disorder; PBD; Zellweger syndrome; Neonatal adrenoleukodystrophy; Infantile Refsum disease; Heimler syndrome; PEX ; Very long chain fatty acids; VLCFA