Summary
Optimum conditions for assay of human plasma β-mannosidase activity were determined. Maximum activity was observed at pH 3.0–3.4, the apparentK m was 0.9 mmol L−1 and enzymatic hydrolysis was linear for at least 60 min. Assays were performed on plasma from two siblings with the recently described condition β-mannosidosis and their parents and controls. Both β-mannosidosis patients showed a marked deficiency of β-mannosidase activity. Control samples showed no variation between sexes (p>0.05) but enzyme activity varied significantly with age (p<0.05). Highest activity was observed in the 0–1 year age group, activity then decreasing to adulthood, Both mother and father of the affected individuals showed reduced activity (34% and 53%, respectively) compared to age-matched controls. This suggests that heterozygote detection in this condition is possible using plasma, provided the variation of activity with age is taken into consideration.
This is a preview of subscription content, log in via an institution to check access.
Similar content being viewed by others
References
Bergmeyer, H. V. (ed.)Principles of Enzymatic Analysis, Verlag Chemie, New York, 1978, pp. 226–227
Cavanagh, K., Dunstan, W. and Jones, M. Z. Plasma α-and β-mannosidase activities in caprine β-mannosidosis.Am. J. Vet. Res. 43 (1982) 1058
Chester, M. A. and Ockerman, P. A. Studies on human β-mannosidase.Proceedings of The Sixth International Symposium on Glycoconjugates, Japan Scientific Societies Press, Tokyo, 1981, p. 208
Cooper, A., Sardharwalla, I. B. and Roberts, M. M. Human β-mannosidase deficiency.N. Engl. J. Med. 315 (1986) 1231
Dawson, G. Evidence for two distinct forms of mammalian β-mannosidase.J. Biol. Chem. 257 (1982) 3369
Dunstan, R. W., Cavanagh, K. and Jones, M. Z. Caprine α-and β-mannosidase activities: Effects of age, sex and reproductive status and potential use in heterozygote detection of β-mannosidosis.Am. J. Vet. Res. 44 (1983) 685
Healy, P. J., Seaman, J. T., Gardner, I. A. and Sewell, C. A. β-mannosidase deficiency in Anglo-Nubian goats.Aust. Vet. J. 57 (1981) 504
Jones, M. Z. and Dawson, G. Caprine β-mannosidosis.J. Biol. Chem. 256 (1981) 5185
Jones, M. Z., Cunningham, J. G., Dade, A. W., Alessi, D. M., Mostosky, U. V., Borro, J. R., Benitez, J. T. and Lovell, K. L. Caprine β-mannosidosis: Clinical and Pathological Features.J. Neuropathol. Exp. Neurol. 42 (1983) 268
Lombardo, A., Goi, G. C. and Marchesini, S. Influence of age and sex on five human plasma lysosomal enzymes assayed by automated procedures.Clin. Chim. Acta 113 (1981) 141
Lovell, K. L. and Jones, M. Z. Distribution of central nervous system lesions in β-mannosidosis.Acta Neuropathol. (Berl.) 62 (1983) 121–126
Lowden, J. A. Evidence for hybrid hexosaminidase isoenzyme in heterozygotes for Sandhoff's disease.Am. J. Hum. Genet. 31 (1979) 281
Panday, R. S., Van Diggelen, O. P., Kleijer, W. J. and Niermeijer, M. F. β-mannosidase in human leucocytes and fibroblasts.J. Inher. Metab. Dis. 7 (1984) 155
Wenger, D. A., Sujansky, E., Fennessey, P. V. and Thompson, J. N. Human β-mannosidase deficiency.N. Engl. J. Med. 315 (1986) 1201
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
Cooper, A., Hatton, C. & Sardharwalla, I.B. Acid β-mannosidase of human plasma: Influence of age and sex on enzyme activity. J Inherit Metab Dis 10, 229–233 (1987). https://doi.org/10.1007/BF01800067
Received:
Accepted:
Issue Date:
DOI: https://doi.org/10.1007/BF01800067