Abstract
Overlapping clinical phenotypes are a diagnostic challenge to the clinician, especially in the cases of mucolipidosis (ML) and mucopolysaccharide disorders (MPS), due to overlapping phenotypes. Present study was carried out in 147 children suspected to have ML or MPS and 100 controls. They were screened for ML II/III by colorimetric method using substrate pNCS. Six children were found screen positive for ML II/III and further confirmatory study showed significantly raised activity in plasma confirming high specificity of the ML screening test. Forty-two (28.5%) children out of remaining 141 children that were screen negative, were found to have various MPS disorders, while rest 99 had normal enzyme activity in plasma and leucocytes. Present study demonstrates prompt and specific chemical method that can be used as a tool for estimating ML II/III, with high specificity.
Similar content being viewed by others
References
Meikle PJ, Hopwood JJ, Clague AE, Carey WF. Prevalence of lysosomal storage disorders. JAMA. 1999;281:249–254.
Mariko K, Michael B, Canfield W. Mucolipidosis II (ICell Disease) and mucolipidosis IIIA (Classical Pseudo-Hurler Polydystrophy) are caused by mutations in the GlcNAc-phosphotransferase á/â-subunits precursor. Am J Hum Genet. 2006;78:451–463.
Raas-Rothschild A, Cormier-Daire V, Bao M, Genin E, Salomon R, Brewer K, et al. Molecular basis of variant pseudo-Hurler polydystrophy (mucolipidosis IIIC). J Clin Invest. 2000;105:673–681.
Staretz-Chacham O, Lang TC, LaMarca ME, Krasnewich D, Sidransky E. Lysosomal storage disorders in the newborn. Pediatrics. 2009;123:1191–1207.
Aracena M, Mabe P, Mena M, Andreani S, Daza C. Mucolipidoses type II. Rev Med Child. 2003;131:314–319.
Chang MHY, Bindloss CA, Grabowski GA, Qi X, Winchester B, Hopwood JJ, et al. Saposins A, B, C and D in plasma patients with lysosomal storage disorders. Clinic Chem. 2000;46:167–174.
Meikle P, Ranieri E, Simonsen H, Rozaklis T, Ramsay SL, Whitfield PD, et al. Newborn screening for lysosomal storage disorders: clinical evaluation of a two-tier strategy. Pediatrics. 2004;114:909–916.
Fuller M, Tucker JN, Lang DL, Dean CJ, Fietz MJ, Meikle PJ, et al. Screening patients referred to a metabolic clinic for lysosomal storage disorders. J Med Genet. 2011;48:422–425.
Raine DN, Crossley JE, Kennedy JF. Lysosomal ‘acid’ hydrolases in normal individuals controls and patients with inborn errors of metabolism. British Polymer Journal. 1983;15:139–148.
Wiesmann U, Vasella F, Herschkowitz N. I-cell disease: leakage of lysosomal enzymes in to extracellular fluid. N Engl J Med. 1971;285:1090.
Sheth JJ, Oza N, Mistri M, Naik P, Kumar S, Sheth F. Mucolipidosis II (I-cell) in two children with skeletal abnormality, Dysmorphism and Hepatosplenomegaly. Pediatric On call [series online] 2009; [cited 2009 May1];Vol 6, Art # 24. Available from: http://www.pediatriconcall.com/fordoctor/casereports/mucolipidosis.asp
Hwu WL, Chuang SC, Wang WC, Wang TR. Diagnosis of I cell disease. Zhonzhua Min Guo Xiao Er Ke Yi Xue Hui Za Zhi. 1994;35:508.
Natowicz MR, Wang Y. Plasma hyaluronidase activity in mucolipidoses II and III: Marked differences from other lysosomal enzymes. AJMG. 1996;65:209–212.
Lee-Vaupel M, Conzelmann EA. Simple chromogenic assay for arylsulphatase A. Clin Chim Acta. 1987;164:171–180.
Clark AG, Jowett DA, Smith JN. A continuous spectrophotometric assay for arylsulfatase activity dependent on the formation of complex between cupric ions and notrocatechols. Analytical Biochemistry. 1981;118:231–239.
Author information
Authors and Affiliations
Corresponding author
Rights and permissions
About this article
Cite this article
Sheth, J.J., Mistri, M., Kamate, M. et al. Diagnostic strategy for mucolipidosis II/III. Indian Pediatr 49, 975–977 (2012). https://doi.org/10.1007/s13312-012-0247-6
Received:
Revised:
Accepted:
Published:
Issue Date:
DOI: https://doi.org/10.1007/s13312-012-0247-6