Clinical and laboratorial study of 19 cases of mucopolysaccharidoses

• Autor(a) principal: Albano,Lilian M. J.
• Data de Publicação: 2000
• Outros Autores: Sugayama,Sofia S. M. M., Bertola,Débora R., Andrade,Carlos E. F., Utagawa,Cláudia Y., Puppi,Flávia, Nader,Helena B., Toma,Leny, Coelho,Janice, Leistner,Sandra, Burin,Maira, Giugliani,Roberto, Chong,A. Kim
• Tipo de documento: Artigo
• Idioma: eng
• Título da fonte: Revista do Hospital das Clínicas
• Texto Completo: http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0041-87812000000600004
• topic: Mucopolysaccharidoses; Glycosaminoglycans; Lysosomal storage diseases

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.