Clinical and laboratorial study of 19 cases of mucopolysaccharidoses

Authors

  • Lilian M. J. Albano
  • Sofia S. M. M. Sugayama
  • Débora R. Bertola
  • Carlos E. F. Andrade
  • Cláudia Y. Utagawa
  • Flávia Puppi
  • Helena B. Nader
  • Leny Toma
  • Janice Coelho
  • Sandra Leistner
  • Maira Burin
  • Roberto Giugliani
  • A. Kim Chong

DOI:

https://doi.org/10.1590/S0041-87812000000600004

Keywords:

Mucopolysaccharidoses, Glycosaminoglycans, Lysosomal storage diseases

Abstract

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.

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Published

2000-12-01

Issue

Section

Original Articles

How to Cite

Clinical and laboratorial study of 19 cases of mucopolysaccharidoses . (2000). Revista Do Hospital Das Clínicas, 55(6), 213-218. https://doi.org/10.1590/S0041-87812000000600004