Abstract
Acid hydrolases have been determined in serum, urine and brain of a neonatal case of I-cell disease. Hexosamine and hexose contents of several tissues were elevated and the urinary excretion of bound sialic acid was very much increased.
This is a preview of subscription content, log in via an institution to check access.
Similar content being viewed by others
References
Baum, H., Dodgson, K. and Spencer, B. The assay of arylsulfatase A and B in human urine.Clin. Chim. Acta 4 (1954) 453–455
Eto, Y., Wesmann, U. and Herschkowitz, N. Psychosine sulfatase: enzyme characteristics and its deficiency in cultured skin fibroblasts in patients with metachromatic leukodystrophy.J. Biol. Chem. 249 (1974) 4955–4960
Eto, Y., Owada, M., Kitagawa, T., Kokubun, Y. and Rennert, O. M. Neurochemical abnormality in I-cell disease: chemical analysis and a possible importance of beta-galactosidase deficiency.J. Neurochem. 32 (1979) 397–405
Spritz, R. A., Doughty, R. A., Spackman, T. J., Murnane, M. J., Coates, P. M., Koldovský, O. and Zackai, E. H. Neonatal presentation of I-cell disease.J. Pediatr. 93 (1978) 954–958
Svennerholm, L. The quantitative estimation of sialic acid: a colorimetric resorcinol-hydrochloric acid method.Biochim. Biophys. Acta 24 (1957) 604–612
Vesterberg, O. and Svensson, H. Isoelectric fractionation, analysis and characterization in natural pH gradient.Acta Chem. Scand. 249 (1966) 820–834
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
Ohta, H., Mori, T., Eto, Y. et al. Neonatal I-cell disease: Clinical and biochemical observations. J Inherit Metab Dis 4, 85–86 (1981). https://doi.org/10.1007/BF02263603
Issue Date:
DOI: https://doi.org/10.1007/BF02263603