title: Absence of biochemical evidence at an early age delays diagnosis in a patient with a clinically severe peroxisomal biogenesis disorder.
abstract: Analysis of the plasma levels of very long chain fatty acids (VLCFA) is a primary screening method for peroxisomal disorders and usually identifies severe peroxisomal biogenesis defects reliably. We report a patient presenting with typical facial stigmata, a treatment resistant seizure disorder and polymicrogyria, whose plasma VLCFA levels were within normal limits until the age of 18 months. Only thereafter an elevation was found. Subsequent enzymatic and molecular genetic analysis revealed compound heterozygous mutations in the PEX6 gene. In conclusion, normal VLCFA levels do not necessarily exclude global peroxisomal biogenesis defects and the analysis should be repeated subsequently. Persisting clinical suspicion justifies further enzymatic and molecular evaluation.
authors.affiliation: Department of Pediatric Neurology, Goethe University Hospital, Frankfurt, Germany. Electronic address: Natalia.Luesebrink@kgu.de.
authors.forename: Natalia
authors.initials: N
authors.lastname: Lüsebrink
authors.affiliation: Institute for Neuroradiology, Goethe University Hospital, Frankfurt, Germany.
authors.forename: Luciana
authors.initials: L
authors.lastname: Porto
authors.affiliation: Laboratory Genetic Metabolic Diseases, Department of Pediatrics/Emma Children's Hospital, Academic Medical Center, University of Amsterdam, The Netherlands.
authors.forename: Hans R
authors.initials: HR
authors.lastname: Waterham
authors.affiliation: Laboratory Genetic Metabolic Diseases, Department of Pediatrics/Emma Children's Hospital, Academic Medical Center, University of Amsterdam, The Netherlands.
authors.forename: Sacha
authors.initials: S
authors.lastname: Ferdinandusse
authors.affiliation: Department of Pediatrics and Pediatric Neurology, Georg August University, Göttingen, Germany.
authors.forename: Hendrik
authors.initials: H
authors.lastname: Rosewich
authors.affiliation: Department of Pediatric Neurology, University Hospital Muenster, Germany.
authors.forename: Gerd
authors.initials: G
authors.lastname: Kurlemann
authors.affiliation: Department of Pediatric Neurology, Goethe University Hospital, Frankfurt, Germany.
authors.forename: Matthias
authors.initials: M
authors.lastname: Kieslich
mesh_terms: D000074183:ATPases Associated with Diverse Cellular Activities; D000251:Adenosine Triphosphatases / Q000235:genetics*; D005227:Fatty Acids / Q000097:blood*; D005260:Female; D006801:Humans; D009154:Mutation; D015211:Zellweger Syndrome / Q000097:blood / Q000175:diagnosis* / Q000235:genetics
chemical_list: D005227:Fatty Acids; D000251:Adenosine Triphosphatases; D000074183:ATPases Associated with Diverse Cellular Activities; C490759:PEX6 protein, human
keywords: PEX6; Peroxisomal biogenesis disorder; Polimicrogyria; VLCFA; Zellweger spectrum disorder