Human disorders of peroxisome metabolism and biogenesis

Biochim Biophys Acta. 2016 May;1863(5):922-33. doi: 10.1016/j.bbamcr.2015.11.015. Epub 2015 Nov 22.

Abstract

Peroxisomes are dynamic organelles that play an essential role in a variety of cellular catabolic and anabolic metabolic pathways, including fatty acid alpha- and beta-oxidation, and plasmalogen and bile acid synthesis. Defects in genes encoding peroxisomal proteins can result in a large variety of peroxisomal disorders either affecting specific metabolic pathways, i.e., the single peroxisomal enzyme deficiencies, or causing a generalized defect in function and assembly of peroxisomes, i.e., peroxisome biogenesis disorders. In this review, we discuss the clinical, biochemical, and genetic aspects of all human peroxisomal disorders currently known.

Keywords: Biogenesis; Enzyme deficiencies; Metabolism; PEX genes; Peroxisomes; Zellweger spectrum disorders.

Publication types

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

MeSH terms

  • ATPases Associated with Diverse Cellular Activities
  • Fatty Acids / metabolism
  • Gene Expression Regulation
  • Humans
  • Membrane Proteins / chemistry
  • Membrane Proteins / deficiency*
  • Membrane Proteins / genetics
  • Metabolic Networks and Pathways / genetics
  • Mutation
  • Organelle Biogenesis*
  • Oxidation-Reduction
  • Peroxisomal Disorders / genetics
  • Peroxisomal Disorders / metabolism*
  • Peroxisomal Disorders / pathology
  • Peroxisomes / chemistry
  • Peroxisomes / metabolism*
  • Plasmalogens / metabolism
  • Protein Isoforms / chemistry
  • Protein Isoforms / genetics
  • Protein Isoforms / metabolism
  • Protein Sorting Signals
  • Protein Transport
  • Signal Transduction

Substances

  • Fatty Acids
  • Membrane Proteins
  • Plasmalogens
  • Protein Isoforms
  • Protein Sorting Signals
  • ATPases Associated with Diverse Cellular Activities
  • PEX1 protein, human

Supplementary concepts

  • Peroxisome biogenesis disorders