ISSN:
1432-1076
Keywords:
Cerebro-hepato-renal syndrome
;
Zellweger syndrome
;
Peroxisomes
;
Prenatal diagnosis
;
Inborn error
Source:
Springer Online Journal Archives 1860-2000
Topics:
Medicine
Notes:
Abstract In this paper we show that whereas acyl-CoA: dihydroxyacetone phosphate acyltransferase, a membranebound peroxisomal enzyme, is deficient in homogenates of cultured amniotic fluid cells of fetuses with Zellweger syndrome, catalase a soluble peroxisomal matrix enzyme is present in normal amounts. Digitonin titration experiments revealed a striking difference in the percentage of particle-bound catalase in control and Zellweger aminocytes: in Zellweger amniocytes all catalase activity was found to be present in the soluble cytoplasm, (〈5% particlebound), whereas in control amniocytes catalase was found to be predominantly particle-bound (62%±8%, n=5). Measurement of the percentage of particle-bound catalase by means of digitonin titrations thus provides a simple prenatal test for Zellweger syndrome via the direct demonstration of the presence or absence of catalase-containing particles (peroxisomes).
Type of Medium:
Electronic Resource
URL:
http://dx.doi.org/10.1007/BF00441876
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