title: Adult peroxisomal acyl-coenzyme A oxidase deficiency with cerebellar and brainstem atrophy.
abstract: Peroxisomal acyl-coenzyme A oxidase deficiency (formerly also called pseudoneonatal adrenoleucodystrophy) is a disorder of peroxisomal fatty acid oxidation with a severe presentation. Most patients present at birth or in early infancy, and the mean age of death was 5 years in a recently published cohort of 22 patients. Brain imaging shows a progressive leucodystrophy. The authors report here the first adult patients (two siblings, 52 and 55 years old) with peroxisomal acyl-coenzyme A oxidase deficiency with a remarkably mild clinical presentation. Magnetic resonance brain imaging revealed profound atrophy of the brainstem and cerebellum.
authors.affiliation: Laboratory Genetic Metabolic Diseases, F0-220, Academic Medical Center, University of Amsterdam, 1105 AZ Amsterdam, The Netherlands. S.Ferdinandusse@amc.uva.nl
authors.forename: Sacha
authors.initials: S
authors.lastname: Ferdinandusse
authors.forename: Simon
authors.initials: S
authors.lastname: Barker
authors.forename: Katherine
authors.initials: K
authors.lastname: Lachlan
authors.forename: Marinus
authors.initials: M
authors.lastname: Duran
authors.forename: Hans R
authors.initials: HR
authors.lastname: Waterham
authors.forename: Ronald J A
authors.initials: RJ
authors.lastname: Wanders
authors.forename: Simon
authors.initials: S
authors.lastname: Hammans
mesh_terms: D042962:Acyl-CoA Oxidase; D001284:Atrophy; D001933:Brain Stem / Q000473:pathology*; D002531:Cerebellum / Q000473:pathology*; D018450:Disease Progression; D005260:Female; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D008875:Middle Aged; D009460:Neurologic Examination; D010088:Oxidoreductases / Q000172:deficiency* / Q000235:genetics; D018901:Peroxisomal Disorders / Q000175:diagnosis* / Q000235:genetics; D010641:Phenotype
chemical_list: D010088:Oxidoreductases; C107176:peroxisomal acyl-CoA oxidase; D042962:Acyl-CoA Oxidase