Abstract
In this paper we show that whereas acyl-CoA: dihydroxyacetone phosphate acyltransferase, a membrane-bound 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 amniocytes: in Zellweger amniocytes all catalase activity was found to be present in the soluble cytoplasm, (less than 5% particle-bound), 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)
Original language | English |
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Pages (from-to) | 136-138 |
Journal | European journal of pediatrics |
Volume | 145 |
Issue number | 1-2 |
DOIs |
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Publication status | Published - 1986 |