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Year : 2012  |  Volume : 5  |  Issue : 3  |  Page : 313-326

Clinical, biochemical and genetic aspects of peroxisomal disorders – an expanding group of genetic diseases in humans

University of Amsterdam, Academic Medical Centre, Department of Clinical Chemistry and Paediatrics, Emma Children's Hospital, Laboratory Genetic Metabolic Diseases, Amsterdam, the Netherlands

Correspondence Address:
Ronald J A Wanders
Lab Genetic Metabolic Diseases, Room F0–226, Academic Medical Centre, University of Amsterdam, Meibergdreef 9, 1105 AZ Amsterdam
the Netherlands
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Source of Support: None, Conflict of Interest: None

DOI: 10.7707/hmj.v5i3.212

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Zellweger syndrome (ZS) in its classic form is an autosomal recessive lethal disease characterized by the absence of morphologically recognizable peroxisomes. Detailed studies on ZS in the early 1980s have led to the discovery of a set of peroxisomal biomarkers in blood which has revolutionized our knowledge about peroxisomes and peroxisomal disorders, and formed the basis for the discovery of the group of peroxisomal diseases known at present. Peroxisomal disorders are classified into two distinct groups including the disorders of peroxisome biogenesis (group 1) and peroxisome function (group 2). The enzymatic and molecular basis of most peroxisomal disorders has been identified through the years and pre- and post-natal diagnostic methods have been established. This review describes the current state of knowledge with respect to peroxisomes and peroxisomal disorders with particular emphasis on the clinical biochemical and genetic aspects of these disorders.

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