Zellwegar Syndrome: Biochemical and Morphological Studies on Two Patients Treated with Clofibrate View Full Text


Ontology type: schema:ScholarlyArticle     


Article Info

DATE

1985-12

AUTHORS

Paul B Lazarow, Virginia Black, Helen Shio, Yukio Fujiki, Amiya K Hajra, Nabanita S Datta, Babu S Bangaru, Joseph Dancis

ABSTRACT

Two infants with Zellweger syndrome (cerebro-hepato-renal syndrome) have been studied biochemically and morphologically. Peroxisomal enzymes involved in respiration, fatty acid beta-oxidation, and plasmalogen biosynthesis were assessed. In liver, catalase was present in normal amounts but was located in the cell cytosol. Dihydroxyacetone phosphate acyltransferase activity was less than one-tenth of normal. The amount of the bifunctional protein catalyzing two beta-oxidation reactions was found by immunoblotting to be greatly reduced. Catalase activity was normal in intestine. D-Amino acid oxidase was subnormal in kidney. The observed enzyme deficiencies may plausibly explain many of the metabolite imbalances observed clinically. Morphologically, peroxisomes were absent from liver. In intestine, normal peroxisomes were also missing, but some rare, smaller (0.04-0.13 micrometer) bodies were seen with a slight positive cytochemical reaction for catalase. These results, together with current concepts of peroxisome biogenesis, suggest but do not prove, that the primary defect in Zellweger syndrome may be in peroxisome assembly. The infants were treated with clofibrate, but it was ineffectual as assessed biochemically, morphologically, and clinically. More... »

PAGES

1356

Identifiers

URI

http://scigraph.springernature.com/pub.10.1203/00006450-198512000-00030

DOI

http://dx.doi.org/10.1203/00006450-198512000-00030

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1017941819

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/4080458


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