Abstract
There is a deficiency of human α-N-acetylneuraminidase in several inherited diseases. In patients with mucolipidosis I (refs 1, 2) and in adults with a variant form without bony abnormalities and mental retardation3,4, both also classified as sialidoses4, it is the only deficient enzyme. In mucolipidosis II (‘I-cell’ disease) neuraminidase is one of many deficient lysosomal hydrolases5–7 and a third manifestation combines deficiency of neuraminidase and β-galactosidase8,9. We have investigated the genetic background of these various neuraminidase deficiencies by somatic cell hybridization and co-cultivation. The principal conclusions from work on mutant fibroblasts, reported here, are that at least three gene mutations are involved and that the combined β-galactosidase/neuraminidase deficiency is likely to be due to defective post-translational modification of these enzymes.
Similar content being viewed by others
References
Cantz, M., Gehler, J. & Spranger, J. Biochem. biophys. Res. Commun. 74, 732–738 (1977).
Spranger, J., Gehler, J. & Cantz, M. Am. J. med. Genet. 1, 21–29 (1977).
Durand, P. et al. Helv. paediat. Acta 32, 391–400 (1977).
Lowden, J. A. & O'Brien, J. S. Am. J. hum. Genet. 31, 1–18 (1979).
Thomas, G. H. et al. Biochem. biophys. Res. Commun. 71, 188–195 (1976).
Strecker, G., Michalski, J. C., Montreuil, J. & Farriaux, J. P. Biomedicine, Paris 25, 210–238 (1976).
Hasilik, A., Rome, L. H. & Neufeld, E. F. Fedn. Proc. 38, 467 (1979).
Wenger, D. A., Tarby, T. J. & Wharton, C. Biochem. biophys. Res. Commun. 82, 589–595 (1978).
Okada, S. et al. Eur. J. Pediat. 130, 239–249 (1979).
Loonen, M. C. B., Lugt, van der, L. & Franke, C. L. Lancet ii, 785 (1974).
Andria, G., Del Guidice, E. & Reuser, A. J. J. Clin. Genet. 14, 16–23 (1978).
Galjaard, H. et al. Nature 257, 60–62 (1975).
Reuser, A. J. J. et al. Hum. Genet. 46, 11–19 (1979).
Hales, A. Somat. Cell Genet. 3, 227–230 (1977).
d'Azzo, A., Halley, D. J. J., Hoogeveen, A. & Galjaard, H. Am. J. hum. Genet. (in the press).
Jongkind, J. F., Verkerk, A. & Tanke, H. Expl Cell Res. 120, 444–448 (1979).
Rosenberg, A. & Schengrund, C. L. Biological Roles of Sialic Acid (Plenum, New York, 1976).
Ledeen, R. W. J. supramolec. Struct. 8, 1–17 (1978).
Cantz, M. & Messer, H. Eur. J. Biochem. 97, 113–118 (1979).
Warner, T. G. & O'Brien, J. S. Biochemistry 18, 2783–2787 (1979).
Warren, L. J. biol. Chem. 234, 1971–1975 (1959).
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
Hoogeveen, A., Verheijen, F., d'Azzo, A. et al. Genetic heterogeneity in human neuraminidase deficiency. Nature 285, 500–502 (1980). https://doi.org/10.1038/285500a0
Received:
Accepted:
Issue Date:
DOI: https://doi.org/10.1038/285500a0
- Springer Nature Limited
This article is cited by
-
Complementation studies in human and caprine β‐mannosidosis
Journal of Inherited Metabolic Disease (1991)
-
Clinical heterogeneity in infantile galactosialidosis
European Journal of Pediatrics (1987)
-
Ganglioside GM1 metabolism in living human fibroblasts with ?-galactosidase deficiency
Human Genetics (1986)
-
Genetic complementation in somatic cell hybrids of four variants of infantile GM2 gangliosidosis
Human Genetics (1985)
-
Infantile type 2 sialidosis in a Pakistani family — a clinical and biochemical study
Journal of Inherited Metabolic Disease (1984)