title: Pseudo-Zellweger syndrome: deficiencies in several peroxisomal oxidative activities.
abstract: We describe an infant girl with a clinical, chemical, and pathologic syndrome remarkably similar to Zellweger cerebrohepatorenal syndrome but whose liver parenchymal cells contained abundant peroxisomes. Peroxisomal L-alpha hydroxy acid oxidase, catalase, and the plasmalogen synthesizing enzyme dihydroxy acetone phosphate-acyl transferase activities were normal; other peroxisomal enzymatic activities, including fatty acyl-CoA oxidase and D-amino acid oxidase, were reduced by 80% to 85%. Oxidation of bile acids and pipecolic acid was also deficient. Autopsy revealed the presence of neuronal heterotopia, renal cortical cysts, adrenal atrophy, and accumulation of very long chain fatty acids. The clinical and pathologic features of this case of "pseudo-Zellweger syndrome" reflect a deficiency in multiple peroxisomal activities rather than a defect in peroxisomal biogenesis. The deficient enzymatic activities require flavin adenine dinucleotide, and the underlying defect may be in the utilization of this cofactor.
authors.forename: S
authors.initials: S
authors.lastname: Goldfischer
authors.forename: J
authors.initials: J
authors.lastname: Collins
authors.forename: I
authors.initials: I
authors.lastname: Rapin
authors.forename: P
authors.initials: P
authors.lastname: Neumann
authors.forename: W
authors.initials: W
authors.lastname: Neglia
authors.forename: A J
authors.initials: AJ
authors.lastname: Spiro
authors.forename: T
authors.initials: T
authors.lastname: Ishii
authors.forename: F
authors.initials: F
authors.lastname: Roels
authors.forename: J
authors.initials: J
authors.lastname: Vamecq
authors.forename: F
authors.initials: F
authors.lastname: Van Hoof
mesh_terms: D042962:Acyl-CoA Oxidase; D001647:Bile Acids and Salts / Q000378:metabolism; D001927:Brain Diseases / Q000175:diagnosis / Q000201:enzymology* / Q000473:pathology; D003605:D-Amino-Acid Oxidase / Q000172:deficiency*; D003937:Diagnosis, Differential; D005260:Female; D005182:Flavin-Adenine Dinucleotide / Q000378:metabolism; D006801:Humans; D007223:Infant; D007674:Kidney Diseases / Q000175:diagnosis / Q000201:enzymology* / Q000473:pathology; D008099:Liver / Q000201:enzymology / Q000473:pathology; D008107:Liver Diseases / Q000175:diagnosis / Q000201:enzymology* / Q000473:pathology; D008830:Microbodies / Q000201:enzymology*; D008930:Mitochondria, Liver / Q000201:enzymology; D009132:Muscles / Q000201:enzymology / Q000473:pathology; D010088:Oxidoreductases / Q000172:deficiency*; D013577:Syndrome
chemical_list: D001647:Bile Acids and Salts; D005182:Flavin-Adenine Dinucleotide; D010088:Oxidoreductases; D042962:Acyl-CoA Oxidase; D003605:D-Amino-Acid Oxidase