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. 1986 Dec;125(3):524–535.

Multiple Peroxisomal Enzymatic Deficiency Disorders

A Comparative Biochemical and Morphologic Study of Zellweger Cerebrohepatorenal Syndrome and Neonatal Adrenoleukodystrophy

Joseph Vamecq, Jean-Pierre Draye, François Van Hoof, Jean-Paul Misson, Philippe Evrard, Gaston Verellen, Hendrik J Eyssen, Johan Van Eldere, Ruud B H Schutgens, Ronald J A Wanders, Frank Roels, Sidney L Goldfischer
PMCID: PMC1888479  PMID: 2879480

Abstract

Biologic, morphologic, and biochemical investigations performed in 2 patients demonstrate multiple peroxisomal deficiencies in the cerebrohepatorenal syndrome of Zellweger (CHRS) and neonatal adrenoleukodystrophy (NALD). Very long chain fatty acids, abnormal bile acids, including bile acid precursors (di- and trihydroxycoprostanoic acids), and C29-dicarboxylic acid accumulated in plasma in both patients. Generalized hyperaminoaciduria was also present. Peroxisomes could not be detected in CHRS liver and kidney; however, in the NALD patient, small and sparse cytoplasmic bodies resembling altered peroxisomes were found in hepatocytes. Hepatocellular and Kupffer cell lysosomes were engorged with ferritin and contained clefts and trilaminar structures believed to represent very long chain fatty acids. Enzymatic deficiencies reflected the peroxisomal defects. Hepatic glycolate oxidase and palmitoyl-CoA oxidase activities were deficient. No particle-bound catalase was found in cultured fibroblasts, and ether glycerolipid (plasmalogen) biosynthesis was markedly reduced. Administration of phenobarbital and clofibrate, an agent that induces peroxisomal proliferation and enzymatic activities, to the NALD patient did not bring about any changes in plasma metabolites, liver peroxisome population, or oxidizing activities.

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Selected References

These references are in PubMed. This may not be the complete list of references from this article.

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