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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References
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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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