The cerebro-hepato-renal (Zellweger) syndrome: Prenatal detection based on impaired biosynthesis of plasmalogens |
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Authors: | R B H Schutgens G Schrakamp R J A Wanders H S A Heymans H W Moser A E Moser J M Tagers H V D Bosch P Aubourm |
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Institution: | 1. Department of Pediatrics, University Hospital of Amsterdam, Meibergdreef 9, 1105 AZ Amsterdam, The Netherlands;2. Laboratory of Biochemistry, State University Utrecht. Utrecht, The Netherlands;3. The John F. Kennedy Instituie. Johns Hopkins University, Baltimore, U.S.A.;4. Laboratory of Biochemistry. University of Amsterdam. Amsterdam, The Netherlands;5. Høpital Saint-Vincent de Paul, Paris, France |
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Abstract: | Prenatal diagnosis of the cerebro-hepato-renal (Zellweger) syndrome has been performed in 10 pregnancies at risk by measuring both the activity of acyl CoA: dihydroxyacetonephosphate acyltransferase (DHAP-AT) and the de novo plasmalogen biosynthesis, either in cultured amniotic fluid cells or in fibroblasts cultured from a chorionic villus biopsy. In 7 of the pregnancies both tests indicated no abnormality. All 7 continued to term and normal infants were delivered. However, in amniotic fluid cells from 2 fetuses affected by Zellweger syndrome unequivocal differences from control values were found. The activity of DHAP-AT was clearly deficient and the de novo plasmalogen biosynthesis was impaired. In one pregnancy at risk prenatal diagnosis was performed during the first trimester by measuring both the DHAP-AT activity and the de novo plasmalogen biosynthesis in fibroblasts cultured from a chorionic villi biopsy. From the deficient DHAP-AT activity and the impaired de novo plasmalogen biosynthesis it was concluded that the fetus was affected. This was confirmed biochemically after induced abortion. It can be concluded that measurement of the DHAP-AT activity and the de novo plasmalogen biosynthesis provides convenient methods for the early prenatal detection of Zellweger syndrome. |
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Keywords: | Acyl-CoA: dihydroxyacetonephosphate acyltransferase Cerebro-hepato-renal syndrome of Zellweger Peroxisomes Plasmalogens |
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