Summary
Brain, liver, kidney and spleen biopsy and autopsy specimens were taken from patients with aspartylglucosaminuria for biochemical investigations. Total cholesterol values for brain and liver were normal as were also the values for N-acetylneuraminic acid in brain. Lipid phosphate was slightly increased both in the brain and liver. The thin-layer chromatographic patterns of brain gangliosides and phospholipids were normal.
In the group of fourteen different lysosomal enzymes the activity of N-aspartyl-β-glucosaminidase was markedly decreased in the brain, liver and spleen but not in the kidney. The activities of a number of other enzymes, especially those of N-acetyl-β-d-glucosaminidase and N-acetyl-β-d-galactosaminidase were high in the same three tissues and again normal in the kidney. No consistent abnormalities were recorded in the groups of three microsomal and three other enzymes.
The biochemical findings seem to be characteristic to aspartylglucosaminuria and delineate it as a special disease entity.
This is a preview of subscription content, log in via an institution to check access.
Similar content being viewed by others
References
Arstila, A., Palo, J., Haltia, M., Riekkinen, P., Autio, S.: Aspartylglucosaminuria I: Fine structural studies on liver kidney and brain. Acta neuropath. (Berl.)20, 207–216 (1972).
Ginsburg, V., Neufeld, E. F.: Complex heterosaccharides of animals. Ann. Rev. Biochem.38, 371–388 (1969).
Hers, H. G., van Hoof, F.: Genetic abnormalities of lysosomes. In: Lysosomes in Biology and Pathology. Edit. by J. T. Dingle and Honor B. Fell. Amsterdam: North-Holland Publ. Comp. 1969.
Hoof, F. van, Hers, H. G.: The abnormalities of lysosomal enzymes in mucopolysaccharidoses. Europ. J. Biochem.7, 34–44 (1968).
Jenner, F. A., Pollitt, R. J.: Large quantities of 2-acetamido-1-(β'-l-aspartamido)-1,2-dideoxyglucose in the urine of mentally retarded siblings. Biochem. J.103, 48P-49P (1967)
Mahadevan, S., Nduaguba, J. C., Tappel, A. L.: Sialidase of rat liver and kidney. J. biol. Chem.242, 4409–4413 (1967).
—, Tappel, A. L.: β-aspartylglucosylamine amido hydrolase of rat liver and kidney. J. biol. Chem.242, 4568–4576 (1967).
Makino, M., Kojima, T., Yamashina, I.: Enzymatic cleavage of glycopeptides. Biochem. biophys. Res. Commun.24, 961–966 (1966).
Miettinen, T., Takki-Luukkainen, I.-T.: Use of butyl acetate in determination of sialic acid. Acta chem. scand.13, 856–858 (1959).
Ohgushi, T., Yamashina, I.: Distribution of a glycopeptide-degrading enzyme in tissue and cells. Biochim. biophys. Acta (Amst.)156, 417–419 (1968).
Palo, J., Riekkinen, P., Arstila, A., Autio, S.: Biochemical and fine structural studies on brain and liver biopsies in aspartylglucosaminuria. Neurology (Minneap.)21, 1198–1204 (1971).
Riekkinen, P. J., Claussen, J.: Proteinase activity of myelin. Brain Res.15, 413–430 (1969).
Rumsby, M. G., Riekkinen, P. J., Arstila, A. U.: A critical evaluation of myelin purification. Nonspecific esterase activity associated with central nerve myelin preparations. Brain Res.24, 495–516 (1970).
Spranger, J. W., Wiedemann, H.-R.: The genetic mucolipidoses. Diagnosis and differential diagnosis. Humangenetik9, 113–139 (1970).
Suzuki, K.: Ganglioside patterns of normal and pathological brains. In: Inborn errors of sphingolipid metabolism. 3rd International Symposium on the Cerebral sphingolipidoses. Edit. by S. M. Aronson and B. W. Volk. New York: Pergamon Press 1967.
Svennerholm, E., Svennerholm, L.: The separation of neutral blood-serum glycolipids by thin-layer chromatography. Biochim. biophys. Acta (Amst.)70, 432–441 (1963).
Svennerholm, L.: Quantitative estimation of sialic acids. II. A colorimetric resorcinol-hydrochloric acid method. Biochim. biophys. Acta (Amst.)24, 604–611 (1957).
Tappel, A. L.: Lysosomal enzymes and other components. In: Lysosomes in Biology and Pathology. Edit. by J. T. Dingle and Honor B. Fell. Amsterdam: North-Holland Publ. Comp. 1969.
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
Palo, J., Riekkinen, P., Arstila, A.U. et al. Aspartylglucosaminuria II: biochemical studies on brain, liver, kidney and spleen. Acta Neuropathol 20, 217–224 (1972). https://doi.org/10.1007/BF00686903
Received:
Issue Date:
DOI: https://doi.org/10.1007/BF00686903