Skip to main content
SpringerLink
Log in

α- and β- Mannosidoses

  • Chapter
Carbohydrate and Glycoprotein Metabolism; Maternal Phenylketonuria

Summary

Clinical, pathological and biochemical findings in the mannosidoses are described. Family studies showed granulocyte-rich white cell fractions to be the tissue of choice for carrier detection in β-mannosidosis. Metabolic labelling studies using [3H] mannose demonstrated accumulation of Manβ1-4GlcNAc in cultured skin fibroblasts from a patient with this condition. Alternative methods of egress from lysosomes were suggested for this compound by its secretion into culture medium and apparent reduction of storage with time in cultures. β-mannosidase deficient goats are not thought to be a true animal model of the human condition, as although they showed a similar enzyme deficiency, the clinical presentation is much more severe and the major storage material (Manβ1-4GlcNAcβ1-4GlcNAc) is different.

This is a preview of subscription content, log in via an institution to check access.

Access this chapter

Log in via an institution
Chapter
USD 29.95
Price excludes VAT (USA)
  • Available as PDF
  • Read on any device
  • Instant download
  • Own it forever
eBook
USD 129.00
Price excludes VAT (USA)
  • Available as EPUB and PDF
  • Read on any device
  • Instant download
  • Own it forever
Softcover Book
USD 169.99
Price excludes VAT (USA)
  • Compact, lightweight edition
  • Dispatched in 3 to 5 business days
  • Free shipping worldwide - see info

Tax calculation will be finalised at checkout

Purchases are for personal use only

Institutional subscriptions

Preview

Unable to display preview. Download preview PDF.

Unable to display preview. Download preview PDF.

References

  • Beaudet, A. L. and Thomas, G. H. Disorders of glycoprotein degradation: mannosidosis, fucosidosis, sialidosis and aspartylglycosaminuria. In Scriver, C. R., Beaudet, A. L., Sly, W. S. and Valle, D. (eds.), The Metabolic Basis of Inherited Disease, McGraw-Hill, New York, 1989, pp 1603–1621

    Google Scholar 

  • Burditt, L., Chotai, K., Halley, D. and Winchester, B. Comparison of the residual acidic α-D-mannosidase in three cases of mannosidosis. Clin. Chico. Acta 104 (1980a) 201–209

    Article  CAS  Google Scholar 

  • Burditt, L. J., Chotai, K., Hirani, S., Nugent, P. G., Winchester, B. G. and Blakemore, W. F. Biochemical studies on a case of feline mannosidosis. Biochem. J. 189 (1980b) 467–473

    CAS  Google Scholar 

  • Cooper, A., Sardharwalla, I. B. and Roberts, M. M. Human (β-mannosidase deficiency) N. Engl. J. Med. 315 (19) (1986) 1231

    PubMed  CAS  Google Scholar 

  • 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 (3) (1987) 229–233

    Article  PubMed  CAS  Google Scholar 

  • Cooper, A., Hatton, C., Thornley, M. and Sardharwalla, I. B. Human β-mannosidase deficiency: biochemical findings in plasma, fibroblasts, white cells and urine. J. Inher. Metab. Dis. 11 (1) (1988) 17–29

    Article  PubMed  CAS  Google Scholar 

  • Daniel, P. F., Warren, C. D. and James, L. F. Swainsonine-induced oligosaccharide excretion in sheep. Biochem. J. 221 (1984) 601–607

    PubMed  CAS  Google Scholar 

  • Dorland, L., Duran, M., Hoefnagels, F. T. E., Breg, J. N., Fabery de Jonge, H., Cranzberg, K., van Sprang, F. J. and van Diggelen, O. P. β-Mannosidosis in two brothers with hearing loss. J. Inher. Metab. Dis. 11 Suppl. 2 (1988a) 255–258

    Article  Google Scholar 

  • Dorland, L., van Rhee, A. M., van Pelt, J., Duran, M., Dallinga, J., Heerma, W. and de Waard, P. Mannosyl-β(1–4)-N-acetylglucosaminyl-β(1-N)-urea, a compound isolated from the urine of patients with β-mannosidosis. Glvcoconjugate J. 5 (3) (1988b) 215–222

    Article  CAS  Google Scholar 

  • Dunstan, R. W., Cavanagh, K. and Jones, M. Z. Caprine a and β-mannosidase activities: Effect of age, sex and reproductive status and potential use in heterozygote detection of /3- mannosidosis. Am. J. Vet. Res. 44 (4) (1983) 685–689

    PubMed  CAS  Google Scholar 

  • Fowler, B., Giles, L., Cooper, A. and Sardharwalla, I. B. Chorionic villus sampling: uses and limitations of enzyme assays. J. Inher. Metab. Dis. 12 Suppl. 1 (1989) 105–117

    Article  Google Scholar 

  • Hancock, L. W., Jones, M. Z. and Dawson, G. Glycoprotein metabolism in normal and /3- mannosidase-deficient cultured goat skin fibroblasts. Biochem. J. 234 (1986) 175–183

    PubMed  CAS  Google Scholar 

  • 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

    Article  CAS  Google Scholar 

  • Hokke, C. E., Duran, M., Dorland, L., van Pelt, J. and van Sprang, F. J. Novel storage products in human I3-mannosidosis. Abstracts of the 27th Annual Symposium of the Society for the Study of Inborn Errors of Metabolism,Munich, 1989, Abstract No. 114.

    Google Scholar 

  • Jolly, R. D. and Thompson, K. G. The pathology of bovine mannosidosis. Vet. Pathol. 15 (1978) 141–152

    Article  PubMed  CAS  Google Scholar 

  • Jones, M. Z. and Laine, R. A. Caprine oligosaccharide storage disease: accumulation of βmannosyl (1–4)β-N-acetylglucosamine β-N-acetylglucosamine in brain. J. Biol. Chem. 256 (1981) 5181–5184

    PubMed  CAS  Google Scholar 

  • 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

    Article  Google Scholar 

  • Kjellman, B., Gamstorp, I., Brun, A., Ockerman, P-A. and Palmgren, B. Mannosidosis: a clinical and histopathological study. J. Pediatr. 75 (1969) 366–373

    Article  PubMed  CAS  Google Scholar 

  • Lott, I. T. and Daniel, P. F. Serum and urinary trisaccharides in mannosidosis. Neurology 31 (1981) 1159–1162

    PubMed  CAS  Google Scholar 

  • Lovell, K. L. and Jones, M. Z. Distribution of central nervous system lesions in β-mannosidosis. Acta Neuropathol. (Berlin) 62 (1983) 121–126

    Article  CAS  Google Scholar 

  • Malachowski, J. A. and Jones, M. Z. fl-Mannosidosis: lesions of the distal peripheral nervous system. Acta Neuropathol. (Berlin) 61 (1983) 95–100

    Article  CAS  Google Scholar 

  • Matsuura, F. and Jones, M. Z. Structural characterization of novel complex oligosaccharides accumulating in the caprine β-mannosidosis kidney. J. Biol. Chem. 260 (28) (1985) 15239–15245

    Google Scholar 

  • Matsuura, F., Nunez, H. A., Grabowski, G. A. and Sweeley, C. C. Structural studies of urinary oligosaccharides from patients with mannosidosis. Arch. Biochetu. Biophys. 207 (2) (1981) 337–352

    Article  CAS  Google Scholar 

  • Mitchell, M. L., Erickson, R. P., Schmid, D., Hieber, V., Poznanski, A. K. and Hicks, S. P. Mannosidosis: two brothers with different degrees of disease severity. Clin. Genet. 20 (1981) 191–202

    Article  PubMed  CAS  Google Scholar 

  • Montgomery, T. R., Thomas, G. H. and Valle, D. L. Mannosidosis in an adult. The Johns Hopkins Medical J. 151 (1982) 113–121

    CAS  Google Scholar 

  • Okermann, P. A. A generalised storage disease resembling Hurler’s syndrome. Lancet 2 (1967) 239–241

    Article  Google Scholar 

  • Panday, R. S., van Diggelen, O. P., Kleijer, W. J. and Niermeijer, M. F. β-Mannosidase in human leukocytes and fibroblasts. J. Inher. Metab. Dis. 7 (1984) 155–156

    Article  PubMed  CAS  Google Scholar 

  • Poenaru, L., Girard, S., Thepot, F., Madelenat, P., Huraux-Rendu, H., Vinet, M. and Dreyfus, J. Antenatal diagnosis in three pregnancies at risk for mannosidosis. Clin. Genet. 16 (1979) 428–432

    Article  PubMed  CAS  Google Scholar 

  • Render, J. A., Lovell, K. L. and Jones, M. Z. Otic pathology of caprine β-mannosidosis. Vet. Pathol. 25 (1988) 437–442

    Article  PubMed  CAS  Google Scholar 

  • Sewell, A. C. An improved thin-layer chromatographic method for urinary oligosaccharide screening. Clin. Chim. Acta. 92 (1979) 411–414

    Article  PubMed  CAS  Google Scholar 

  • Strecker, G., Fournet, B., Bouquelet, S., Montreuil, J., Dhondt, J. L. and Farariaux, J. P. Etude chimique des mannosides urinaires excretes au cours de la mannosidosis. Biochimie 58 (1976) 578–586

    Google Scholar 

  • Sung, J. H., Hayano, M. and Desnick, R. J. Mannosidosis: pathology of the nervous system. J. Neuropathol. Exp. Neurol. 36 (1977) 807–820

    Article  PubMed  CAS  Google Scholar 

  • Warren, T. G., Mock, A. K., Nyhan, W. L. and O’Brien, J. S. a-Mannosidosis: analysis of urinary oligosaccharides with high performance liquid chromatography and diagnosis of a case with unusually mild presentation. Clin. Genet. 25 (1984) 248–255

    Google Scholar 

  • Wenger, D. A., Sujanski, E., Fennesaey, P. V. and Thompson, J. N. Human β-mannosidase deficiency. N. Engl. J. Med. 315 (1986) 1201–1205

    Article  PubMed  CAS  Google Scholar 

  • Whittem, J. M. and Walker, D. ‘Neuronopathy’ and ‘Pseudolipidosis’ in Aberdeen Angus calves. J. Pathol. Bacteriol. 74 (1957) 281–288

    Article  Google Scholar 

  • Will, A., Cooper, A., Hatton, C., Sardharwalla, I. B. Evans, D. I. K. and Stevens, R. F. Bone marrow transplantation in the treatment of α-mannosidosis. Arch. Dis. Child. 62 (1987) 1044–1049

    Article  PubMed  CAS  Google Scholar 

  • Winchester, B., Cenci di Bello, I. and Willemsen, R. The molecular basis of the enzymic defect in α-mannosidosis. Abstracts of the 27th Annual Symposium of the Society for the Study of Inborn Errors of Metabolism,Munich, 1989, Abstract No. 112

    Google Scholar 

  • Yamashita, K., Tachibana, Y., Mihara, K., Okada, S., Yabuuchi, H. and Kobata, A. Urinary oligosaccharides of mannosidosis. J. Biol. Chem. 255 (1979) 5126–5133

    Google Scholar 

Download references

Author information

Authors and Affiliations

  1. Willink Biochemical Genetics Unit, Royal Manchester Children’s Hospital, Pendlebury, Manchester, M27 1HA, UK

    A. Cooper, C. E. Hatton, M. Thornley & I. B. Sardharwalla

Authors
  1. A. Cooper
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. C. E. Hatton
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. M. Thornley
    View author publications

    You can also search for this author in PubMed Google Scholar

  4. I. B. Sardharwalla
    View author publications

    You can also search for this author in PubMed Google Scholar

Editor information

Editors and Affiliations

  1. Department of Clinical Biochemistry, Institute of Child Health, 30 Guildford Street, WC1N 1EH, London, UK

    R. A. Harkness

  2. Sheffield, UK

    R. J. Pollitt

  3. Manchester, UK

    G. M. Addison

Rights and permissions

Reprints and permissions

Copyright information

© 1990 SSIEM and Kluwer Academic Publishers

About this chapter

Cite this chapter

Cooper, A., Hatton, C.E., Thornley, M., Sardharwalla, I.B. (1990). α- and β- Mannosidoses. In: Harkness, R.A., Pollitt, R.J., Addison, G.M. (eds) Carbohydrate and Glycoprotein Metabolism; Maternal Phenylketonuria. Springer, Dordrecht. https://doi.org/10.1007/978-94-009-2175-7_15

Download citation

  • DOI: https://doi.org/10.1007/978-94-009-2175-7_15

  • Publisher Name: Springer, Dordrecht

  • Print ISBN: 978-0-7923-8947-7

  • Online ISBN: 978-94-009-2175-7

  • eBook Packages: Springer Book Archive

Publish with us

Policies and ethics

Search

Navigation