Clinical and laboratorial study of 19 cases of mucopolysaccharidoses
DOI:
https://doi.org/10.1590/S0041-87812000000600004Keywords:
Mucopolysaccharidoses, Glycosaminoglycans, Lysosomal storage diseasesAbstract
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 -- MPS I (1 case); Hunter -- MPS II (2 cases); Sanfilippo -- MPS III (2 cases); Morquio -- MPS IV (4 cases); Maroteaux-Lamy -- MPS VI (9 cases); and Sly -- 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.Downloads
Published
2000-12-01
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Section
Original Articles
How to Cite
Albano, L. M. J., Sugayama, S. S. M. M., Bertola, D. R., Andrade, C. E. F., Utagawa, C. Y., Puppi, F., Nader, H. B., Toma, L., Coelho, J., Leistner, S., Burin, M., Giugliani, R., & Chong, A. K. (2000). Clinical and laboratorial study of 19 cases of mucopolysaccharidoses . Revista Do Hospital Das Clínicas, 55(6), 213-218. https://doi.org/10.1590/S0041-87812000000600004