A PRENATAL TEST FOR THE CEREBROHEPATORENAL (ZELLWEGER) SYNDROME BY DEMONSTRATION OF THE ABSENCE OF CATALASE-CONTAINING PARTICLES (PEROXISOMES) IN CULTURED AMNIOTIC-FLUID CELLS

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 aminocytes all catalase activity was found to be present in the soluble cytoplasm, (< 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).