title: The important role of biochemical and functional studies in the diagnostics of peroxisomal disorders.
abstract: Peroxisomes are dynamic organelles that play an essential role in a variety of metabolic pathways. Peroxisomal dysfunction can lead to various biochemical abnormalities and result in abnormal metabolite levels, such as increased very long-chain fatty acid or reduced plasmalogen levels. The metabolite abnormalities in peroxisomal disorders are used in the diagnostics of these disorders. In this paper we discuss in detail the different diagnostic tests available for peroxisomal disorders and focus specifically on the important role of biochemical and functional studies in cultured skin fibroblasts in reaching the right diagnosis. Several examples are shown to underline the power of such studies.
authors.affiliation: Laboratory Genetic Metabolic Diseases, Academic Medical Center, University of Amsterdam, Meibergdreef 9, 1105 AZ, Amsterdam, The Netherlands. s.ferdinandusse@amc.uva.nl.
authors.forename: Sacha
authors.initials: S
authors.lastname: Ferdinandusse
authors.affiliation: Laboratory Genetic Metabolic Diseases, Academic Medical Center, University of Amsterdam, Meibergdreef 9, 1105 AZ, Amsterdam, The Netherlands.
authors.forename: Merel S
authors.initials: MS
authors.lastname: Ebberink
authors.affiliation: Laboratory Genetic Metabolic Diseases, Academic Medical Center, University of Amsterdam, Meibergdreef 9, 1105 AZ, Amsterdam, The Netherlands.
authors.forename: Frédéric M
authors.initials: FM
authors.lastname: Vaz
authors.affiliation: Laboratory Genetic Metabolic Diseases, Academic Medical Center, University of Amsterdam, Meibergdreef 9, 1105 AZ, Amsterdam, The Netherlands.
authors.forename: Hans R
authors.initials: HR
authors.lastname: Waterham
authors.affiliation: Laboratory Genetic Metabolic Diseases, Academic Medical Center, University of Amsterdam, Meibergdreef 9, 1105 AZ, Amsterdam, The Netherlands.
authors.forename: Ronald J A
authors.initials: RJ
authors.lastname: Wanders
mesh_terms: D015415:Biomarkers / Q000032:analysis* / Q000097:blood / Q000652:urine; D019937:Diagnostic Techniques and Procedures; D005347:Fibroblasts / Q000473:pathology; D006801:Humans; D008403:Mass Screening / Q000379:methods; D053858:Metabolic Networks and Pathways / Q000502:physiology; D018901:Peroxisomal Disorders / Q000097:blood / Q000175:diagnosis* / Q000378:metabolism / Q000652:urine; D061251:Primary Cell Culture / Q000379:methods; D012867:Skin / Q000473:pathology
chemical_list: D015415:Biomarkers