title: Zellweger-like syndrome with detectable hepatic peroxisomes: a variant form of peroxisomal disorder.
abstract: A male infant with typical clinical and biochemical findings of Zellweger syndrome, but in whom hepatic peroxisomes were detected by electron microscopy, had profound hypotonia, hepatomegaly, typical facial appearance including large fontanelle and frontal bossing, convulsions, panaminoaciduria, and hyperammonemia. He died of liver failure at age 5 months. There were increased levels of very long chain fatty acids and trihydroxycoprostanic acid in serum, and increased excretion of dicarboxylic acids and tyrosine metabolites in the urine. Levels of peroxisomal enzymes, acyl coenzyme A oxidase, bifunctional protein, 3-ketoacyl coenzyme A thiolase, and dihydroxyacetone phosphate acyltransferase in the liver tissue from the patient were all deficient, findings consistent with Zellweger syndrome. However, immunocytochemical study and electron microscopic examination of the liver at autopsy revealed that hepatic peroxisomes were present at a level similar to that in a control subject. These observations suggest further heterogeneity in Zellweger syndrome and a different pathogenesis in this variant case.
authors.affiliation: Department of Pediatrics, Gifu University School of Medicine, Japan.
authors.forename: Y
authors.initials: Y
authors.lastname: Suzuki
authors.forename: N
authors.initials: N
authors.lastname: Shimozawa
authors.forename: T
authors.initials: T
authors.lastname: Orii
authors.forename: N
authors.initials: N
authors.lastname: Igarashi
authors.forename: N
authors.initials: N
authors.lastname: Kono
authors.forename: A
authors.initials: A
authors.lastname: Matsui
authors.forename: Y
authors.initials: Y
authors.lastname: Inoue
authors.forename: S
authors.initials: S
authors.lastname: Yokota
authors.forename: T
authors.initials: T
authors.lastname: Hashimoto
mesh_terms: D001647:Bile Acids and Salts / Q000097:blood; D006801:Humans; D007231:Infant, Newborn; D008099:Liver / Q000201:enzymology / Q000648:ultrastructure*; D008297:Male; D008830:Microbodies / Q000201:enzymology / Q000648:ultrastructure*; D015211:Zellweger Syndrome / Q000201:enzymology / Q000473:pathology*
chemical_list: D001647:Bile Acids and Salts