Abstract
Goldfischer and coworkers (1973) were the first to describe the absence of morphologically distinguishable peroxisomes in liver and kidney tubule cells of patients with the cerebro-hepato-renal (Zellweger) syndrome (McKusick 21410). In recent years it has become clear that peroxisomes are also (virtually) absent in patients with neonatal adrenoleukodystrophy (McKusick 20237), infantile Refsum disease and hyperpipecolic acidaemia (McKusick 23940), at least in the four patients described in the literature (see Wanders et al., 1988, for discussion). The (virtual) absence of peroxisomes in these patients is associated with a generalized loss of peroxisomal functions as reflected in the accumulation of very long-chain fatty acids, bile acid intermediates, pipecolic acid and phytanic acid in plasma from the patients.
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Goldfischer, S., Moore, C. L., Johnson, A. B., Spiro, A. J., Valsamis, M. P., Wisniewski, H. K., Ritch, R. H. Norton, W. T., Rapin, I. and Gartner, L. M. Peroxisomal and mitochondria) defects in the cerebro-hepato-renal syndrome. Science 182 (1973) 62–64
Roels, T., Verdonck, V., Pauwels, M., Lissens, W. and Liebaerts, I. Visualisation of peroxisomes and plasmalogens in first trimester chorionic villus. J. Inher. Metab. Dis. 10 Suppl. 2 (1987) 349–354
Tager, J. M., ten Harmsen van de Beck, W. A. H., Wanders, R. J. A., Hashimoto, T., Heymans, H. S. A., van den Bosch, H., Schutgens, R. B. H. and Schram, A. W., Peroxisomal (3-oxidation enzyme proteins in the Zellweger syndrome. Biochem. Biophys. Res. Commun. 126 (1985) 1269–1275
Wanders, R. J. A., Kos, M., Roest, B., Meijer, A. J., Schrakamp, G., Heymans, H. S. A., Tegelaers, W. H. H., van den Bosch, H., Schutgens, R. B. H. and Tager, J. M. Activity of peroxisomal enzymes and intracellular distribution of catalase in Zellweger syndrome. Biochem. Biophys. Res. Commun. 123 (1984) 1054–1061
Wanders, R. J. A., Schrakamp, G., van den Bosch, H., Tager, J. M., Moser, H. W., Moser, A. E., Aubourgh, P., Kleyer, W. J. and Schutgens, R. B. H. Pre-and postnatal diagnosis of the cerebro-hepato-renal (Zellweger) syndrome via a simple method directly demonstrating the presence or absence of peroxisomes in cultured skin fibroblasts, amniocytes or chorionic villous fibroblasts. J. Inher. Metab. Dis. 9 Suppl. 2 (1986) 317–320
Wanders, R. J. A., van Wijland, M. J. A., van Roermund, C. W. T., Schutgens, R. B. H., van den Bosch, H., Tager, J. M., Nijenhuis, A. and Tromp, A. Prenatal diagnosis of Zellweger syndrome by measurement of very long-chain fatty acid (C26:0) 3-oxidation in cultured chorionic villous fibroblasts: implications for early diagnosis of other peroxisomal disorders. Clin. Chim. Acta 165 (1987) 303–310
Wanders, R. J. A., Heymans, H. S. A., Schutgens, R. B. H., Barth, P. G., van den Bosch, H. and Tager, J. M. Peroxisomal disorders in neurology (Review). J. Neurol. Sci. 88 (1988) 1–39
Wiemer, E. A. C., Brul, S., Just, W. W., van Driel, R., Brouwer-Kelder, E. M., Van den Berg, M., Schutgens, R. B. H., van den Bosch, H., Schram, A. W., Wanders, R. J. A. and Tager, J. M. Presence of peroxisomal membrane proteins in liver and fibroblasts from patients with the Zellweger syndrome and related disorders: evidence for the existence of peroxisomal ghosts. Eur. J. Cell. Biol. submitted for publication
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© 1989 SSIEM and Kluwer Academic Publishers
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Wanders, R.J.A., Wiemer, E.A.C., Brul, S., Schutgens, R.B.H., van den Bosch, H., Tager, J.M. (1989). Prenatal Diagnosis of Zellweger Syndrome by Direct Visualization of Peroxisomes in Chorionic Villus Fibroblasts by Immunofluorescence Microscopy. In: Addison, G.M., Connor, J.M., Harkness, R.A., Pollitt, R.J. (eds) Studies in Inherited Metabolic Disease. Springer, Dordrecht. https://doi.org/10.1007/978-94-009-1069-0_34
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DOI: https://doi.org/10.1007/978-94-009-1069-0_34
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