Summary
Marked deficiencies of β-mannosidase activity were demonstrated in plasma, leukocytes, fibroblasts and urine of a patient with β-mannosidosis, similar deficiencies were observed in the proband's sibling. All other lysosomal enzymes measured, including sulphamidase, exhibited normal activity. Both parents showed reduced plasma and leukocyte β-mannosidase activity. Urinary glycosaminoglycan excretion was normal but TLC of urinary oligosaccharides revealed an abnormal band with the mobility of a disaccharide. This finding was confirmed by Bio-Gel P2 column chromatography. Further purification of this compound revealed two disaccharides, both of which yielded mannose and glucosamine following acid hydrolysis and mannose andN-acetylglucosamine following enzymic digestion. These two compounds are thought to be structural isomers of the disaccharide Manβ-GlcNAc.
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Baum, H., Dodgson, K. S. and Spencer, B. The assay of aryl sulphatases A and B in human urine.Clin. Chim. Acta 4 (1959) 453–455
Beaudet, A. L. Disorders of glycoprotein degradation: mannosidosis, fucosidosis, sialidosis and aspartylglycosaminuria. In Stanbury, J. W., Wyngaarden, J. B., Fredrickson, D. S., Goldstein, J. L. and Brown, M. S. (eds.),The Metabolic Basis of Inherited Disease, McGraw-Hill, New York, 1983, pp. 788–802
Besley, G. T. N. and Gat, S. Spectrophotometric and fluorimetric assays of galactocerebrosidase activity, their use in the diagnosis of Krabbe's disease.Clin. Chim. Acta 110 (1981) 19–26
Cooper, A., Hatton, C. and Sardharwalla, I. B. Acid β-mannosidase of human plasma: influence of age and sex on enzyme activity.J. Inher. Metab. Dis. 10 (1987) In press.
Cooper, A., Sardharwalla, I. B. and Roberts, M. M. Human β-mannosidase deficiency.N. Engl. J. Med. 315 (1986) 1231
Dubois, M., Gilles, K. A., Hamilton, J. K., Rebers, P. A. and Smith, F. Colorimetric method for determination of sugars and related substances.Anal. Chem. 28 (1956) 350–356
Dunstan, R. W., Cavanagh, K. and Jones, M. Z. Caprine α-and β-mannosidase activities: Effect of age, sex and reproductive status and potential use in heterozygote detection of β-mannosidosis.Am. J. Vet. Res. 44 (1983) 685–689
Gal, A. E., Brady, R. O., Hibbert, S. R. and Pentchev, P. G. A practical chromogenic procedure for the detection of homozygotes and heterozygous carriers of Niemann-Pick disease.N. Engl. J. Med. 293 (1975) 632–636
Galjaard, H.Genetic Metabolic Diseases: early diagnosis and prenatal analysis, Elsevier/North Holland, Amsterdam, New York, 1980
Glossl, J. and Kresse, H. A sensitive procedure for the diagnosis ofN-acetylgalactosamine-6-sulphate sulphatase deficiency in Morquio's disease.Clin. Chim. Acta 88 (1978) 111–119
Guy, G. J. and Butterworth, J. Acid esterase activity in cultured skin fibroblasts and amniotic fluid cells using 4-methylumbelliferyl palmitate.Clin. Chim. Acta 84 (1978) 361–371
Harper, P. S., Laurence, K. M., Parkes, A., Wusteman, F. S., Kresse, H., Von Figura, K., Ferguson-Smith, M. A., Duncan, D. M., Logan, R. W., Hall, F. and Whiteman, P. Sanfilippo A disease in the fetus.J. Med. Genet. 11 (1974) 123–132
Healy, P. J., Seaman, J. T., Gardner, I. A. and Sewell, C. A. β-Mannosidase deficiency in Anglo Nubian goats.Austr. Vet. J. 57 (1981) 504–507
Hopwood, J. J. and Elliot, H. The diagnosis of the Sanfilippo C syndrome, using monosac-charide and oligosaccharide substrates to assay acetyl-CoA: 2-amino-2-deoxy-α-glucosideN-acetyltransferase activity.Clin. Chim. Acta 112 (1981) 67–75
Jones, M. Z. and Dawson, G. Caprine β-mannosidosis: inherited deficiency of β-d-mannosidase.J. Biol. Chem. 256 (1981) 5185–5188
Jones, M. Z. and Laine, R. A. Caprine oligosaccharide storage disease: accumulation of β-mannosyl (1–4) β-N-acetylglucosamine β-N-acetylglucosamine in brain.J. Biol. Chem. 256 (1981) 5181–5184
Jones, M. Z., Cunningham, J. G., Dade, A. W., Alessi, D. M., Mostoski, U. V., Vorro, J. R., Benitez, J. T. and Lovell, K. L. Caprine β-mannosidosis. Clinical and pathological features.J. Neuropathol. Exp. Neurol. 421 (1983) 268–285
Li, E., Tabas, I. and Kornfeld, S. The synthesis of complex-type oligosaccharides.J. Biol. Chem. 253 (1978) 7762–7770
Lovell, K. L. and Jones, M. Z. Distribution of central nervous system lesions in β-mannosidosis.Acta Neuropathol. (Berl.) 62 (1983) 121–126
Lowry, D. H., Rosebrough, H. J., Farr, A. L. and Randall, R. J. Protein measurement with the Folin phenol reagent.J. Biol. Chem. 193 (1951) 265–275
McKusick, V. A. and Neufeld, E. F. The mucopolysaccharide storage diseases. In Stanbury, J. B., Wyngaarden, J. B., Fredrickson, D. S., Goldstein, J. L. and Brown, M. S. (eds.),The Metabolic Basis of Inherited Disease, McGraw-Hill, New York, 1983, pp. 751–777
Malachowski, J. A. and Jones, M. Z. β-Mannosidosis: lesions of the distal peripheral nervous system.Acta Neuropathol. (Berl.) 61 (1983) 95–100
Matsuura, F. and Jones, M. Z. Structural characterization of novel complex oligosaccharides accumulating in the caprine β-mannosidosis kidney.J. Biol. Chem. 260 (1985) 15239–15245
Matsuura, F., Laine, R. A. and Jones, M. Z. Oligosaccharides accumulating in the kidney of a goat with β-mannosidosis: mass spectrometry of intact permethylated derivatives.Arch. Biochem. Biophys. 211 (1981a) 485–493
Matsuura, F., Nunez, H. A., Grabowski, G. A. and Sweeley, C. C. Structural studies of urinary oligosaccharides from patients with mannosidosis.Arch. Biochem. Biophys. 207 (1981b) 337–352
Mayes, J. S., Sheerer, J. B., Sifers, R. N. and Donaldson, M. L. Differential assay for lysosomal alpha-galactosidase in human tissues and its application to Fabry's disease.Clin. Chim. Acta 112 (1981) 247–251
Menzies, I. S. and Seakins, J. W. T. Sugars. In Smith, I. and Seakins, J. W. T. (eds.),Chromatographic and Electrophoretic Techniques, Vol. 1, Heinemann, London, 1976, p. 183
O'Brien, J. S. The gangliosidoses. In Stanbury, J. B., Wyngaarden, J. B., Fredrickson, D. S., Goldstein, J. L. and Brown, M. S. (eds.),The Metabolic Basis of Inherited Disease, McGraw-Hill, New York, 1983, pp. 945–969
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) 155–156
Peters, S. P., Lee, R. E. and Glew, R. H. A microassay for Gaucher disease.Clin. Chim. Acta 60 (1975) 391–396
Stirling, J. L., Robinson, D., Fensom, A. H., Benson, P. F. and Baker, J. E. Fluorimetric assay for prenatal detection of Hurler and Scheie homozygotes or heterozygotes.Lancet 1 (1978) 147
Strecker, G. and Lamaire-Poitau, A. Fractionation and characterization of acidic oligosaccharides and glycopeptides from normal and pathological urines.J. Chromatogr. 143 (1977) 553–569
Wenger, D. A., Sujansky, E., Fennessey, P. V. and Thompson, J. N. Human β-mannosidase deficiency.N. Engl. J. Med. 315 (1986) 1201–1205
Whiteman, P. The quantitative determination of glycosaminoglycans in urine with Alcian Blue 8GX.Biochem. J. 131 (1973a) 351–357
Whiteman, P. Prenatal diagnosis of mucopolysaccharidoses.Lancet 1 (1973b) 1249
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Cooper, A., Hatton, C., Thornley, M. et al. Human β-mannosidase deficiency: Biochemical findings in plasma, fibroblasts, white cells and urine. J Inherit Metab Dis 11, 17–29 (1988). https://doi.org/10.1007/BF01800054
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DOI: https://doi.org/10.1007/BF01800054