Clinical and neuroimaging spectrum of peroxisomal disorders

Ai Peng Tan, Fabrício Guimarães Gonçalves, Abeer Almehdar, Bruno Passebon Soares

Research output: Contribution to journalReview articlepeer-review


Peroxisomes play vital roles in a broad spectrum of cellular metabolic pathways. Defects in genes encoding peroxisomal proteins can result in a wide array of disorders, depending upon the metabolic pathways affected. These disorders can be broadly classified into 2 main groups; peroxisome biogenesis disorders (PBDs) and single peroxisomal enzyme deficiencies. Peroxisomal enzyme deficiencies are result of dysfunction of a specific metabolic pathway, while PBDs are due to generalized peroxisomal dysfunction. Mutations in PEX1 gene are the most common cause of PBDs, accounting for two-thirds of cases. Peroxisomal fission defects is a recently recognized entity, included under the subgroup of PBDs. The aim of this article is to provide a comprehensive review on the clinical and neuroimaging spectrum of peroxisomal disorders.

Original languageEnglish (US)
Pages (from-to)241-257
Number of pages17
JournalTopics in Magnetic Resonance Imaging
Issue number4
StatePublished - 2018


  • Peroxisome biogenesis disorders
  • Peroxisomes
  • Rhizomelic chondrodysplasia punctata
  • Single peroxisomal enzyme deficiencies
  • Xlinked adrenoleukodystrophy
  • Zellweger spectrum disorders

ASJC Scopus subject areas

  • Radiology Nuclear Medicine and imaging


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