title: Clinical and Biochemical Pitfalls in the Diagnosis of Peroxisomal Disorders.
abstract: Peroxisomal disorders are a heterogeneous group of genetic metabolic disorders, caused by a defect in peroxisome biogenesis or a deficiency of a single peroxisomal enzyme. The peroxisomal disorders include the Zellweger spectrum disorders, the rhizomelic chondrodysplasia punctata spectrum disorders, X-linked adrenoleukodystrophy, and multiple single enzyme deficiencies. There are several core phenotypes caused by peroxisomal dysfunction that clinicians can recognize. The diagnosis is suggested by biochemical testing in blood and urine and confirmed by functional assays in cultured skin fibroblasts, followed by mutation analysis. This review describes the phenotype of the main peroxisomal disorders and possible pitfalls in (laboratory) diagnosis to aid clinicians in the recognition of this group of diseases.
authors.affiliation: Department of Pediatric Neurology, Emma Children's Hospital, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands.
authors.forename: Femke C C
authors.initials: FC
authors.lastname: Klouwer
authors.affiliation: Department of Pediatric Neurology, Emma Children's Hospital, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands.
authors.forename: Irene C
authors.initials: IC
authors.lastname: Huffnagel
authors.affiliation: Laboratory Genetic Metabolic Diseases, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands.
authors.forename: Sacha
authors.initials: S
authors.lastname: Ferdinandusse
authors.affiliation: Laboratory Genetic Metabolic Diseases, Academic Medical Center, University of Amsterdam, 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, Amsterdam, The Netherlands.
authors.forename: Ronald J A
authors.initials: RJ
authors.lastname: Wanders
authors.affiliation: Department of Pediatric Neurology, Emma Children's Hospital, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands.
authors.forename: Marc
authors.initials: M
authors.lastname: Engelen
authors.affiliation: Department of Pediatric Neurology, Emma Children's Hospital, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands.
authors.forename: Bwee Tien
authors.initials: BT
authors.lastname: Poll-The
mesh_terms: D000326:Adrenoleukodystrophy / Q000097:blood / Q000175:diagnosis; D017668:Age of Onset; D015415:Biomarkers / Q000097:blood; D018902:Chondrodysplasia Punctata, Rhizomelic / Q000097:blood / Q000175:diagnosis; D004252:DNA Mutational Analysis; D005838:Genotype; D006801:Humans; D018901:Peroxisomal Disorders / Q000097:blood / Q000175:diagnosis*; D010641:Phenotype; D019998:Racemases and Epimerases / Q000172:deficiency; D012035:Refsum Disease / Q000097:blood / Q000175:diagnosis; D015211:Zellweger Syndrome / Q000097:blood / Q000175:diagnosis
chemical_list: D015415:Biomarkers; D019998:Racemases and Epimerases; C108352:alpha-methylacyl-CoA racemase