Trabalho completo: acesso retrito, p. 732–738The 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 noncarriers;
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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