Summary
The liver ultrastructure of four patients with the peroxisomal disease primary hyperoxaluria type I has been investigated. In all cases, peroxisomes of normal appearance were present in the parenchymal cells, except that they were somewhat reduced in number and size. In all patients, conspicuous lipofuscin was present, presumably resulting from the various metabolic disturbances to which the livers were subjected during the course of their disease. Considerable hepatocyte iron overloading was found in the three patients who had been haemodialysed and/or had blood transfusion. Whether the relatively mild peroxisomal abnormalities (as compared to other peroxisomal diseases, such as Zellweger's syndrome) found in these hyperoxaluric patients are related directly to the peroxisomal deficiency of alanine:glyoxylate aminotransferase, or whether they are a secondary phenomenon, resulting from the consequent metabolic disturbance, remains to be elucidated.
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References
Ali, M., Fayami, O., Rigolosi, R., Franscino, J., Marsden, T., and Malcolm, D. Hemosiderosis in hemodialysis patients.J. Am. Med. Assoc. 244 (1980) 343–345
Baudhuin, P., Beaufay, H., Rahman-Li, Y., Sellinger, O. Z., Wattiaux, R., Jacques, P. and De Duve, C. Tissue fractionation studies. 17. Intracellular distribution of monoamine oxidase, aspartate aminotransferase, alanine aminotransferase, D-aminoacid oxidase and catalase in rat liver tissue.Biochem, J. 92 (1964) 179–184
Canonico, P. G., White, J. D. and Pourando, M. C. Peroxisome depletion in rat liver during pneumococcal sepsis.Lab. Invest. 33 (1975) 147–150
Danpure, C. J. and Jennings, P. R. Peroxisomal alanine: glyoxylate aminotransferase deficiency in primary hyperoxaluria type I.FEBS Lett. 201 (1986) 20–24
Danpure, C. J., Jennings, P. R. and Watts R. W. E. Enzymological diagnosis of primary hyperoxaluria Type I by measurement of hepatic alanine: glyoxylate aminotransferase activity.Lancet 1 (1987) 289–291
Goldfischer, S., Collins, J., Rapin, I., Coltoff-Schiller, B., Chang, C., Nigro, M., Black, V. H., Javitt, N. B., Moser, H. W. and Lazarow, P. B. Peroxisomal defects in neonatalonset and X-linked adrenoleukodystrophies.Science 227 (1985) 67–70
Goldfischer, S., Moore, C. I., 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 mitochondrial defects in the cerebro-hepato-renal syndrome.Science 182 (1973) 62–64
Goldfischer, S. and Reddy, J. K. Peroxisomes (microbodies) in cell pathology.Int. Rev. Exp. Pathol. 26 (1984) 45–84
Iancu, T. C. Iron overload.Molec. Aspects Med. 6 (1983) 1–100
Lazarow, P. B. Peroxisomes. In Arias, I., Popper, H., Schachter, D, and Shafritz, D. A. (eds.),Liver: Biology and Pathobiology. Raven Press, New York, 1982, pp. 27–39
Loud, A. V. A quantitative stereological description of the ultrastructure of normal rat liver parenchymal cells.J. Cell Biol. 37 (1968) 27–46
Lowry, O. H., Rosebrough, N. J., Farr, A. L. and Randall, R. J. Protein measurement with folin phenol reagent.J. Biol. Chem. 193 (1951) 265–275
Nakatani, T., Kawasaki, Y., Minatogawa, Y., Okuno, E and Kido, R. Peroxisome localized human hepatic alanine-glyoxylate aminotransferase and its application to clinical diagnosis.Clin. Biochem. 18 (1985) 311–316
Porta, E. A., Joun, N. S. and Hokama, Y. Effects of starvation on hepatic peroxisomes and peroxisomal enzymes in rats (abstract).Fed. Proc. 25 (1976) A428
Riede, U. N. and Rohr, H. P. Das Reaktionsmuster der Leber-Peroxysomen (=Microbodies) im Verlaufe einer Zellschadigung.Beitr. Pathol. 151 (1974) 111–133
Rohr, H. P., Luthy, J., Gudat, F., Oberholzer, M., Gysin, C., Stalder, G. and Bianchi. L. A new supplement to the study of human liver biopsy specimens. In Popper, H. and Schaffner, F. (eds.),Progress in Liver Disease Vol. V, Grune and Stratton, New York, 1976, pp. 24–34
Rowsell, E. V., Carnie, J. A., Snell, K. and Taktak, B. Assays for glyoxylate aminotransferase activities.Int. J. Biochem. 3 (1972) 247–257
Scheuer, P. J.Liver Biopsy Interpretation. Bailliere Tindal, London, 1980, pp. 192–199
Sternlieb, I. Electron microscopy of mitochondria and peroxisomes of human hepatocytes.Prog. Liver Dis. 6 (1979) 81–104
Sternlieb, I. and Quintana, N. The peroxisomes of human hepatocytes.Lab. Invest. 36 (1977) 140–149
Weibel, E. R., Staubli, W., Gnagi, H. R. and Hess, F. A. Correlated morphometric and biochemical studies on the liver cell. I. Morphometric model, stereological methods and normal morphometric data for rat liver.J. Cell. Biol. 42 (1969) 68–91
Williams, H. E. and Smith, L. H. Primary hyperoxaluria. In Stanbury, J. B., Wyngaarden, J. B. and Fredrickson, D. S. (eds.),The Metabolic Basis of Inherited Disease, McGraw-Hill, New York, 1983, pp. 204–228
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Iancu, T.C., Danpure, C.J. Primary hyperoxaluria type I: Ultrastructural observations in liver biopsies. J Inherit Metab Dis 10, 330–338 (1987). https://doi.org/10.1007/BF01799975
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DOI: https://doi.org/10.1007/BF01799975