title: Prenatal diagnosis of inborn errors in peroxisomal beta-oxidation.
abstract: In recent years, an increasing number of inherited diseases in man have been recognized in which there is an impairment in the peroxisomal beta-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 beta-oxidation. Eleven pregnancies at risk were monitored by measuring very-long-chain fatty acid levels as well as very-long-chain fatty acid beta-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.
authors.affiliation: Department of Pediatrics, University Hospital of Amsterdam, The Netherlands.
authors.forename: R J
authors.initials: RJ
authors.lastname: Wanders
authors.forename: R B
authors.initials: RB
authors.lastname: Schutgens
authors.forename: H
authors.initials: H
authors.lastname: van den Bosch
authors.forename: J M
authors.initials: JM
authors.lastname: Tager
authors.forename: W J
authors.initials: WJ
authors.lastname: Kleijer
mesh_terms: D000102:Acetyl-CoA C-Acyltransferase; D000326:Adrenoleukodystrophy / Q000175:diagnosis; D000649:Amniocentesis; D001647:Bile Acids and Salts / Q000097:blood; D015193:Chorionic Villi Sampling; D002849:Chromatography, Gas; D005227:Fatty Acids / Q000378:metabolism; D005260:Female; D006801:Humans; D008661:Metabolism, Inborn Errors / Q000175:diagnosis*; D008830:Microbodies / Q000378:metabolism*; D011247:Pregnancy; D012867:Skin / Q000378:metabolism; D015211:Zellweger Syndrome / Q000175:diagnosis
chemical_list: D001647:Bile Acids and Salts; D005227:Fatty Acids; D000102:Acetyl-CoA C-Acyltransferase