ABSTRACT
BACKGROUND: Mucopolysaccharidoses are a group of inherited lysosomal storage disorders consisting of 7 distinct clinical types and numerous subtypes. These are the result of deficiency of certain lysosomal degradative enzymes which are required to breakdown Glycosaminoglycans. The clinical features observed among Mucopolysaccharidoses subtypes show overlapping signs and symptoms with other lysosomal storage disorders and rheumatologic disorders. This makes clinical diagnosis a challenge. With the advent of new therapies, appropriate medical management is possible and hence establishing timely diagnosis has become crucial. METHODS: In this retrospective data analysis, 2 different diagnostic approaches were discussed. The first diagnostic approach involves screening by Glycosaminoglycans' quantification and two-dimensional cellulose acetate electrophoresis and confirmation by enzyme analysis. The second diagnostic approach involves direct enzyme analysis on basis of the clinical suspicion. RESULTS: This first approach seems to be appropriate for the diagnosis of almost all types of Mucopolysaccharidoses. The second approach is found to be more pertinent for type III Mucopolysaccharidosis. CONCLUSIONS: Our retrospective data analysis suggests that urinary Glycosaminoglycans screening followed by enzyme analysis confirmation seems to be rapid and cost effective approach for diagnosing these disorders.