Skip to main content
SpringerLink
Log in

A Case of Sanfillippo’s Disease Correlating Clinical and Biochemical Findings

  • Case Report
  • Published:
Indian Journal of Clinical Biochemistry Aims and scope Submit manuscript

    We’re sorry, something doesn't seem to be working properly.

    Please try refreshing the page. If that doesn't work, please contact support so we can address the problem.

Abstract

The mucopolysaccharidoses (MPSs) are a heterogeneous group of rare inherited disorders caused by deficiency of lysosomal enzyme necessary to break down mucopolysaccharides or glycosaminoglycans (GAGs). We had combined clinical findings and ophthalmological features. Biochemical test for urine glycosaminoglycans was done for confirmation of diagnosis in the patient. The case of Sanfillippo’s disease was characterized by delayed development, hyperactivity with aggressive behaviour. Coarse facial feature, hirsutism and sleep disorder. Urine GAG tests for MPS was positive in the case. Based on clinical findings and biochemical tests for MPS, this case was diagnosed as a type III mucopolysaccharidoses. Urinary GAG’s electrophoresis is an important screening test for MPS suspected cases.

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

Access this article

Log in via an institution

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Institutional subscriptions

References

  1. Spranger J. Mucopolysaccharidosis. In: Kliegman R, Stanton B, Behrman R, editors. Nelson textbook of pediatrics. 18th edn., New Delhi: Elsevier; 2008. p. 620–6

  2. Wraith J. Mucopolysaccharidoses and Oligosaccharidoses, inborn metabolic diseases. Heidelberg: Springer; 2006. p. 495–507.

    Book  Google Scholar 

  3. Mabe P, Valiente A, Soto V, Cornejo V, Raimann E. Evaluation of reliability for urine mucopolysaccharidosis screening by dimethylene blue and Berry spot tests. Clin Chim Acta. 2004;345:135–40.

    Article  PubMed  CAS  Google Scholar 

  4. Pennock CA. A review and selection of simple laboratory methods used for the study of glycosaminoglycan excretion and the diagnosis of mucopolysaccharidoses. J Clin Pathol. 1976;29:111–23.

    Article  PubMed  CAS  PubMed Central  Google Scholar 

  5. Protocols in lab diagnosis of IEM, Dept of neurochemistry, NIMHANS, 2005, 27.

  6. Di Ferrante N. Urinary excretion of acid mucopolysaccharides by patients with rheumatoid arthritis. J. Clin. Invest. 1957;36:1516–20.

    Article  PubMed Central  Google Scholar 

  7. Loewi G. Urinary excretion of acid polysaccharide in rheumatoid arthritis and other diseases. Ann Rheum Dis. 1959;18:239–43.

    Article  PubMed  CAS  PubMed Central  Google Scholar 

  8. Iwata S, Sukegawa K, Sasaki T, Kokuryu M. Mass screening test for mucopolysaccharidoses using the 1,9-dimethylene blue method: positive interference from paper diapers. Clin Chim Acta. 1997;264:245–50.

    Article  PubMed  CAS  Google Scholar 

  9. Wessler E. Analytical and preparative separation of acidic glycosaminoglycans by electrophoresis in bariumacetate. Analyt. Biochem. 1968;26:439–44.

    Article  PubMed  CAS  Google Scholar 

  10. Rigante D, Caradonna P. Secondary skeletal involvement in Sanfilippo syndrome. Q J Med. 2004;97:205–9.

    Article  CAS  Google Scholar 

  11. Ashworth JL, Biswas S, Wraith E, Lloyd IC. Mucopolysaccharidoses and the eye. Surv Ophthalmol. 2006;51:1–17.

    Article  PubMed  Google Scholar 

Download references

Author information

Authors and Affiliations

  1. Department of Biochemistry, Kasturba Medical College, Manipal, Manipal University, Manipal, 576104, Karnataka, India

    Priyanka Datta, Anushre Prasad, Vijetha Shenoy & Pragna Rao

  2. Department of Paediatrics, Kasturba Medical College, Manipal, Manipal University, Manipal, 576104, Karnataka, India

    Shrikiran Hebbar & Suneel C. Mundkur

Authors
  1. Priyanka Datta
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Anushre Prasad
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. Vijetha Shenoy
    View author publications

    You can also search for this author in PubMed Google Scholar

  4. Shrikiran Hebbar
    View author publications

    You can also search for this author in PubMed Google Scholar

  5. Suneel C. Mundkur
    View author publications

    You can also search for this author in PubMed Google Scholar

  6. Pragna Rao
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to Anushre Prasad.

Rights and permissions

Reprints and permissions

About this article

Cite this article

Datta, P., Prasad, A., Shenoy, V. et al. A Case of Sanfillippo’s Disease Correlating Clinical and Biochemical Findings. Ind J Clin Biochem 29, 520–523 (2014). https://doi.org/10.1007/s12291-014-0420-x

Download citation

  • Received:

  • Accepted:

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s12291-014-0420-x

Keywords

Search

Navigation