title: Human disorders of peroxisome metabolism and biogenesis.
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.
authors.affiliation: Laboratory Genetic Metabolic Diseases, Academic Medical Center, University of Amsterdam, The Netherlands. Electronic address: h.r.waterham@amc.uva.nl.
authors.forename: Hans R
authors.initials: HR
authors.lastname: Waterham
authors.affiliation: Laboratory Genetic Metabolic Diseases, Academic Medical Center, University of Amsterdam, The Netherlands.
authors.forename: Sacha
authors.initials: S
authors.lastname: Ferdinandusse
authors.affiliation: Laboratory Genetic Metabolic Diseases, Academic Medical Center, University of Amsterdam, The Netherlands.
authors.forename: Ronald J A
authors.initials: RJ
authors.lastname: Wanders
mesh_terms: D000074183:ATPases Associated with Diverse Cellular Activities; D005227:Fatty Acids / Q000378:metabolism; D005786:Gene Expression Regulation; D006801:Humans; D008565:Membrane Proteins / Q000737:chemistry / Q000172:deficiency* / Q000235:genetics; D053858:Metabolic Networks and Pathways / Q000235:genetics; D009154:Mutation; D001678:Organelle Biogenesis; D010084:Oxidation-Reduction; D018901:Peroxisomal Disorders / Q000235:genetics / Q000378:metabolism* / Q000473:pathology; D020675:Peroxisomes / Q000737:chemistry / Q000378:metabolism*; D010955:Plasmalogens / Q000378:metabolism; D020033:Protein Isoforms / Q000737:chemistry / Q000235:genetics / Q000378:metabolism; D021382:Protein Sorting Signals; D021381:Protein Transport; D015398:Signal Transduction
chemical_list: D005227:Fatty Acids; D008565:Membrane Proteins; D010955:Plasmalogens; D020033:Protein Isoforms; D021382:Protein Sorting Signals; D000074183:ATPases Associated with Diverse Cellular Activities; C111808:PEX1 protein, human
keywords: Biogenesis; Enzyme deficiencies; Metabolism; PEX genes; Peroxisomes; Zellweger spectrum disorders