title: Very large peroxisomes in distinct peroxisomal disorders (rhizomelic chondrodysplasia punctata and acyl-CoA oxidase deficiency): novel data.
abstract: We report very large hepatic peroxisomes (d-circle greater than 1 micron) in a patient with rhizomelic chondrodysplasia punctata and a patient with acyl-CoA oxidase deficiency. The effects of peroxisomal enlargement on the enzymatic activity are discussed. As increase in peroxisomal size is also reported in at least 12 other patients with peroxisomal disorders, we propose a relationship between the enlargement of the organelles and their functional deficiency.
authors.affiliation: Department of Human Anatomy and Embryology, Vrije Universiteit, Brussels, Belgium.
authors.forename: D
authors.initials: D
authors.lastname: De Craemer
authors.forename: M J
authors.initials: MJ
authors.lastname: Zweens
authors.forename: S
authors.initials: S
authors.lastname: Lyonnet
authors.forename: R J
authors.initials: RJ
authors.lastname: Wanders
authors.forename: B T
authors.initials: BT
authors.lastname: Poll-The
authors.forename: R B
authors.initials: RB
authors.lastname: Schutgens
authors.forename: J J
authors.initials: JJ
authors.lastname: Waelkens
authors.forename: J M
authors.initials: JM
authors.lastname: Saudubray
authors.forename: F
authors.initials: F
authors.lastname: Roels
mesh_terms: D042962:Acyl-CoA Oxidase; D002806:Chondrodysplasia Punctata / Q000473:pathology*; D006621:Hip Joint; D006801:Humans; D007223:Infant; D008099:Liver / Q000648:ultrastructure; D008297:Male; D008830:Microbodies / Q000648:ultrastructure*; D008854:Microscopy, Electron; D010088:Oxidoreductases / Q000172:deficiency*; D012016:Reference Values; D012785:Shoulder Joint
chemical_list: D010088:Oxidoreductases; D042962:Acyl-CoA Oxidase