Clinical and Laboratory Diagnosis of Peroxisomal Disorders

Methods Mol Biol. 2017:1595:329-342. doi: 10.1007/978-1-4939-6937-1_30.


The peroxisomal disorders (PDs) are a heterogeneous group of genetic diseases in man caused by an impairment in peroxisome biogenesis or one of the metabolic functions of peroxisomes. Thanks to the revolutionary technical developments in gene sequencing methods and their increased use in patient diagnosis, the field of genetic diseases in general and peroxisomal disorders in particular has dramatically changed in the last few years. Indeed, several novel peroxisomal disorders have been identified recently and in addition it has been realized that the phenotypic spectrum of patients affected by a PD keeps widening, which makes clinical recognition of peroxisomal patients increasingly difficult. Here, we describe these new developments and provide guidelines for the clinical and laboratory diagnosis of peroxisomal patients.

Keywords: Adrenoleukodystrophy; Etherphospholipids; Fatty acid metabolism; Metabolomics; Peroxisomal diseases; Peroxisomes; Refsum disease; Zellweger syndrome.

Publication types

  • Review
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Acyl-CoA Oxidase / deficiency
  • Acyl-CoA Oxidase / genetics
  • Genetic Testing
  • Humans
  • Peroxisomal Disorders / diagnosis*
  • Peroxisomal Disorders / genetics*
  • Peroxisomal Disorders / metabolism
  • Peroxisomal Multifunctional Protein-2 / deficiency
  • Peroxisomal Multifunctional Protein-2 / genetics
  • Peroxisomal Multifunctional Protein-2 / metabolism
  • Peroxisomes / genetics
  • Peroxisomes / metabolism
  • Phenotype


  • Acyl-CoA Oxidase
  • Peroxisomal Multifunctional Protein-2
  • HSD17B4 protein, human