Abstract
Based on precise diagnostic criteria, 48 cases of mucopolysaccharidoses (MPS) were recognized among 4604 cases referred over 7 years to a specialized Genetics Clinic, giving an incidence of 1.04% of all referred cases and 13.8% of all cases with inborn errors of metabolism (IEM). The subtypes seen most frequently were MPS IVA, MPS VI and MPS II. Most cases presented between 2–5 years of age with onset of symptoms since infancy. An unusually low frequency of skin lesions in patients with MPS II, 9/48 cases with hearing defects, six cases with cardiac disease and one child with paraparesis were some of the clinical manifestations noted. Radiological, biochemical and enzymatic studies are detailed. Clinical problems related to diagnosis of MPS are discussed.
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References
Khare RO, Kumta NB, Bharucha BA, et al. Mucopolysaccharidoses : feasibilities and limitations of diagnosis : Paper read at the XXIst National Conference of Indian Academy of Pediatrics, 1983.
Kagalwala TY. The genetic mucopoly-saccharidoses : A clinico-biochemical and radiological study of 33 cases. Dissertation submitted for M.D. (Pediatrics) of University of Bombay.
Kagalwala TY, Bharucha BA, Khare RD, Kumba NB. Diagnostic approach to coarse fades.Indian J Pediatr 1987;55: 861–870
Lewis PW, Raine DN, Kennedy JF. Recognition of the mucopolysaccharidoses by four screening tests, including a refinement of the albumin turbidity test, and their differentiation by electrophoretic separation of urinary glycosaminoglycans.Ann Clin Biochem 1974,11: 67–71
Lorincz AE, Hurst RE, Kolodny EH. The early laboratory diagnosis of mucopolysaccharidoses.Ann Clin Lab 1982,12: 258–262
Hall CW, Liebaers I, Diatale P, Neufeld EF. Enzymic diagnosis of the genetic mucopolysaccharide storage disorders.Meth Enzymol 1978,50: 439–456
Legum CP, Schorr S, Berman ER. The genetic mucopolysaccharidoses and mucolipidoses: Review and comment. In: Schulman I (ed).Advances in pediatrics Vol 22. Chicago: Year Bk Med Pub Inc. 1976, pp 305–347
Renteria VG, Ferrans VJ. Intracellular collagen fibrils in cardiac valves of patients with the Hurler’s syndrome.Lab Invest 1976,34: 263–272
Manchanda SS, Grewal KS, Wahi PL, Birgla GS. Morquio-Brailsford type of chondro-osleodystrophy. Analysis of 13 cases.Indian Pediatr 1965,2: 149–157
Puri RK, Verma IC. Mucopolysaccharidoses: analysis of 41 cases in Pondicherry.Proceedings of the Vth Annual Conference of Society of Human Genetics, 1978
Ganguly C, Ganguly P, Sarangi NN, Mukherjee KL. Mucopolysaccharidoses in Calcutta.Indian J Pediatr 1986,53: 263–270
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Kagalwala, T.Y., Bharucha, B.A., Kumta, N.B. et al. The mucopolysaccharidoses: A study of 48 cases. Indian J Pediatr 55, 919–925 (1988). https://doi.org/10.1007/BF02727828
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DOI: https://doi.org/10.1007/BF02727828