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Prenatal diagnosis of inborn errors in peroxisomal β-oxidation |
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| Authors: | Dr R J A Wanders R B H Schutgens H van den Bosch J M Tager W J Kleijer |
| 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. Department of Biochemistry, E.C. Slater Institute, University of Amsterdam, The Netherlands;4. Department of Clinical Genetics, Erasmus University, Rotterdam, The Netherlands |
| Abstract: | In recent years, an increasing number of inherited diseases in man have been recognized in which there is an impairment in the peroxisomal β-oxidation of very-long-chain fatty acids. In general, these disorders are associated with severe neurological and physical abnormalities and death within the first years of life. In this paper we describe our experience with regard to the prenatal diagnosis of a number of different inborn errors of peroxisomal β-oxidation. Eleven pregnancies at risk were monitored by measuring very-long-chain fatty acid levels as well as very-long-chain fatty acid β-oxidation in cultured chorionic villous fibroblasts and/or amniotic fluid cells. Five affected fetuses were identified. It is concluded that prenatal diagnosis in this group of diseases can be done reliably using cultured chorionic villous fibroblasts or amniotic fluid cells. |
| Keywords: | Peroxisomal disorders Zellweger syndrome Adrenoleukodystrophy Fatty acid oxidation Prenatal diagnosis |