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Revista do Hospital das Clínicas
On-line version ISSN 1678-9903
ALBANO, Lilian M. J. et al. Clinical and laboratorial study of 19 cases of mucopolysaccharidoses. Rev. Hosp. Clin. [online]. 2000, vol.55, n.6, pp.213-218. ISSN 1678-9903. http://dx.doi.org/10.1590/S0041-87812000000600004.
The mucopolysaccharidoses (MPS) are a heterogeneous group of inborn errors of lysosomal glycosaminoglycan (GAG) metabolism. The importance of this group of disorders among the inborn errors of metabolism led us to report 19 cases. METHOD: We performed clinical, radiological, and biochemical evaluations of the suspected patients, which allowed us to establish a definite diagnosis in 19 cases. RESULTS: Not all patients showed increased GAG levels in urine; enzyme assays should be performed in all cases with strong clinical suspicion. The diagnosis was made on average at the age of 48 months, and the 19 MPS cases, after a full clinical, radiological, and biochemical study, were classified as follows: Hurler ¾ MPS I (1 case); Hunter ¾ MPS II (2 cases); Sanfilippo ¾ MPS III (2 cases); Morquio ¾ MPS IV (4 cases); Maroteaux-Lamy ¾ MPS VI (9 cases); and Sly ¾ MPS VII (1 case). DISCUSSION: The high relative frequency of Maroteaux-Lamy disease contrasts with most reports in the literature and could express a population variability.
Keywords : Mucopolysaccharidoses; Glycosaminoglycans; Lysosomal storage diseases.