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01-12-2009 | ORIGINAL ARTICLE

Clinical and biochemical studies in mucopolysaccharidosis type II carriers

Authors: I. V. D. Schwartz, L. L. C. Pinto, G. Breda, L. Lima, M. G. Ribeiro, J. G. Mota, A. X. Acosta, P. Correia, D. D. G. Horovitz, C. G. G. Porciuncula, E. Lipinski-Figueiredo, A. C. Fett-Conte, R. P. Oliveira Sobrinho, D. Y. J. Norato, A. C. Paula, C. A. Kim, A. R. Duarte, R. Boy, S. Leistner-Segal, M. G. Burin, R. Giugliani

Published in: Journal of Inherited Metabolic Disease | Issue 6/2009

Summary

The aim of the study was to characterize clinically and biochemically mucopolysaccharidosis type II (MPS II) heterozygotes. Fifty-two women at risk to be a carrier, with a mean age of 34.1 years (range 16–57 years), were evaluated through pedigree analysis, medical history, physical examination, measurement of iduronate sulfatase (IDS) activities in plasma and in leukocytes, quantification of glycosaminoglycans (GAGs) in urine, and analysis of the IDS gene. Eligibility criteria for the study also included being 16 years of age or older and being enrolled in a genetic counselling programme. The pedigree and DNA analyses allowed the identification of 40/52 carriers and 12/52 non-carriers. All women evaluated were clinically healthy, and their levels of urinary GAGs were within normal limits. Median plasma and leukocyte IDS activities found among carriers were significantly lower than the values found for non-carriers; there was, however, an overlap between carriers’ and non-carriers’ values. Our data suggests that MPS II carriers show lower plasma and leukocyte IDS activities but that this reduction is generally associated neither with changes in levels of urinary GAGs nor with the occurrence of clinical manifestations.

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Title: Clinical and biochemical studies in mucopolysaccharidosis type II carriers
Authors: I. V. D. Schwartz
L. L. C. Pinto
G. Breda
L. Lima
M. G. Ribeiro
J. G. Mota
A. X. Acosta
P. Correia
D. D. G. Horovitz
C. G. G. Porciuncula
E. Lipinski-Figueiredo
A. C. Fett-Conte
R. P. Oliveira Sobrinho
D. Y. J. Norato
A. C. Paula
C. A. Kim
A. R. Duarte
R. Boy
S. Leistner-Segal
M. G. Burin
R. Giugliani
Publication date: 01-12-2009
Publisher: Springer Netherlands
Published in: Journal of Inherited Metabolic Disease / Issue 6/2009
Print ISSN: 0141-8955
Electronic ISSN: 1573-2665
DOI: https://doi.org/10.1007/s10545-009-1275-9

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