Abstract

Introduction: Mucopolysacchridosis is a lysosomal storage disorder due to deficiency of lysosomal hydrolase class of enzymes mucopolysaccharidases. It is rare, inherited autosomal recessive disorder results from abnormal accumulation of undegraded GAGs in lysosome of various tissues. Patient Info: Skeletal abnormalities, macroglossia, facial dysmorphia, Scoliosis, excessive salivation are few of the characteristic symptoms which make one to suspect this disorder. We present 9 year old male child having macroglossia and hyper salivation. Diagnosis: He was diagnosed as a case of Mucopolysacchridosis after Berry’s Toluidine blue spot test and urine electrophoresis results.

• 1.   Muenzer J, Neufeld EF. Mucopolysaccharidosis. In: Scriver CR, et al., editors. The metabolic basis of inherited disease. 6th ed. New York: Mc Graw hill information services Co; 1989.
• 2.   Sly WS. The Mucopolysaccharidosis. In: Bondy PK, LE Rosenberg, editors. Metabolic control and disease. 8th ed. Philadelphia: WB Saunders Co; 1980.
• 3.   Kaplan D, Classification of Mucopolysacchridosis based on the presence of mucopolysacchariduria. Am.J.Med, 1969, 43(5);721-729
• 4.   HK Berry. Screening for Mucopolysaccharidosis disorder with the Berry spot test. Clinic. Biochem. 1987: 20(5);365-371.
• 5.   Stone JE. Urine analysis in the diagnosis of Mucopolysaccharidosis disorder. Ann. Clinc. Biochem, 1998, 35(pt2), 207-225.
• 6.   CA Pennock. A review and selection of simple laboratory method used for the study of glycosaminoglycan excretion and the diagnosis of the Mucopolysaccharidosis. J. Clin. Path; 1976:29, 111-123.
• 7.   Dorfman A: Studies on the biochemistry of connective tissue. Paediatrics 1958; 22: 576-589.
• 8.   APTE BN. A simple and rapid method for the diagnosis of Mucopolysaccharidosis (mps). Journal of Clinical and Diagnostic Research [serial online] 2009 June 1; 3:1488-1492.
• 9.   Victor W Rodwell, David A Bender, Kathleen M Botham, Peter J Kennelly, P Anthony Weil. Harper’s Illustrated Biochemistry, 31st ed, Mc Graw hill information services Co; 2018, p592-610.
• 10.   Gandhi NS, Mancera RL. The structure of glycosaminoglycan and their interactions with proteins. Chem Biol Drug Des. 2008;72(6):455–82.
• 11.   Sunji Tomatsu et al. New born screening and diagnosis of Mucopolysaccharidosis. Mol. Genet. Metab: 2013; 110(0);42-53.
• 12.   Rattenbury JM, Worthy E, Allen JC. Screening tests for glycosaminoglycan in urine: experience from regional inters laboratory surveys. J Clin Pathol. 1988;41:936–939.

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