Clinical and biochemical studies in mucopolysaccharidosis type II carriers View Full Text


Ontology type: schema:ScholarlyArticle     


Article Info

DATE

2009-12

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

ABSTRACT

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. More... »

PAGES

732-738

References to SciGraph publications

Identifiers

URI

http://scigraph.springernature.com/pub.10.1007/s10545-009-1275-9

DOI

http://dx.doi.org/10.1007/s10545-009-1275-9

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1004541869

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/19821143


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458 schema:name Department of Pediatrics, School of Medicine of Bahia, UFBA, Salvador, Brazil
459 rdf:type schema:Organization
460 https://www.grid.ac/institutes/grid.8532.c schema:alternateName Federal University of Rio Grande do Sul
461 schema:name Department of Genetics, UFRGS, Porto Alegre, Brazil
462 Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Rua Ramiro Barcelos, 2350, 90035–903, Porto Alegre, RS, Brazil
463 Pediatrics Post Graduation Program, School of Medicine, UFRGS, Porto Alegre, Brazil
464 rdf:type schema:Organization
465 https://www.grid.ac/institutes/grid.8536.8 schema:alternateName Federal University of Rio de Janeiro
466 schema:name Clinical Genetics Service, IPPMG, UFRJ, Rio de Janeiro, Brazil
467 rdf:type schema:Organization
 




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