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Neuropediatrics 2016; 47(04): 205-220
DOI: 10.1055/s-0036-1582140
Review Article
Georg Thieme Verlag KG Stuttgart · New York

Clinical and Biochemical Pitfalls in the Diagnosis of Peroxisomal Disorders

Femke C. C. Klouwer   *
1   Department of Pediatric Neurology, Emma Children's Hospital, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands
2   Laboratory Genetic Metabolic Diseases, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands
,
Irene C. Huffnagel   *
1   Department of Pediatric Neurology, Emma Children's Hospital, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands
,
Sacha Ferdinandusse
2   Laboratory Genetic Metabolic Diseases, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands
,
Hans R. Waterham
2   Laboratory Genetic Metabolic Diseases, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands
,
Ronald J. A. Wanders
2   Laboratory Genetic Metabolic Diseases, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands
,
Marc Engelen
1   Department of Pediatric Neurology, Emma Children's Hospital, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands
,
Bwee Tien Poll-The
1   Department of Pediatric Neurology, Emma Children's Hospital, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands
› Author Affiliations
Further Information

Publication History

30 October 2015

16 February 2016

Publication Date:
18 April 2016 (online)

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Abstract

Peroxisomal disorders are a heterogeneous group of genetic metabolic disorders, caused by a defect in peroxisome biogenesis or a deficiency of a single peroxisomal enzyme. The peroxisomal disorders include the Zellweger spectrum disorders, the rhizomelic chondrodysplasia punctata spectrum disorders, X-linked adrenoleukodystrophy, and multiple single enzyme deficiencies. There are several core phenotypes caused by peroxisomal dysfunction that clinicians can recognize. The diagnosis is suggested by biochemical testing in blood and urine and confirmed by functional assays in cultured skin fibroblasts, followed by mutation analysis. This review describes the phenotype of the main peroxisomal disorders and possible pitfalls in (laboratory) diagnosis to aid clinicians in the recognition of this group of diseases.

Keywords

peroxisomal disorders - clinical presentation - diagnostic workup - biochemical abnormalities

* Femke C. C. Klouwer and Irene C. Huffnagel have contributed equally to the article.


 

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