title: Clinical and biochemical studies in mucopolysaccharidosis type II carriers.
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.
authors.affiliation: Department of Genetics, UFRGS, Porto Alegre, Brazil. ida.ez@terra.com.br.|Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Rua Ramiro Barcelos, 2350, 90035-903, Porto Alegre, RS, Brazil. ida.ez@terra.com.br.
authors.forename: I V D
authors.initials: IVD
authors.lastname: Schwartz
authors.affiliation: Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Rua Ramiro Barcelos, 2350, 90035-903, Porto Alegre, RS, Brazil.|Pediatrics Post Graduation Program, School of Medicine, UFRGS, Porto Alegre, Brazil.
authors.forename: L L C
authors.initials: LLC
authors.lastname: Pinto
authors.affiliation: Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Rua Ramiro Barcelos, 2350, 90035-903, Porto Alegre, RS, Brazil.
authors.forename: G
authors.initials: G
authors.lastname: Breda
authors.affiliation: Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Rua Ramiro Barcelos, 2350, 90035-903, Porto Alegre, RS, Brazil.
authors.forename: L
authors.initials: L
authors.lastname: Lima
authors.affiliation: Clinical Genetics Service, IPPMG, UFRJ, Rio de Janeiro, Brazil.
authors.forename: M G
authors.initials: MG
authors.lastname: Ribeiro
authors.affiliation: Institute of Oncology of the South of Minas Gerais (ISMO), Pouso Alegre, Brazil.
authors.forename: J G
authors.initials: JG
authors.lastname: Mota
authors.affiliation: Department of Pediatrics, School of Medicine of Bahia, UFBA, Salvador, Brazil.
authors.forename: A X
authors.initials: AX
authors.lastname: Acosta
authors.affiliation: Post Graduation Program in Women and Children Health, Fernandes Figueira Institute, FIOCRUZ, Rio de Janeiro, Brazil.
authors.forename: P
authors.initials: P
authors.lastname: Correia
authors.affiliation: Department of Medical Genetics, Fernandes Figueira Institute, FIOCRUZ, Rio de Janeiro, Brazil.
authors.forename: D D G
authors.initials: DDG
authors.lastname: Horovitz
authors.affiliation: Clinical Genetics Service, University Hospital, UFAL, Maceió, Brazil.
authors.forename: C G G
authors.initials: CGG
authors.lastname: Porciuncula
authors.affiliation: Clinical Genetics Service, University Hospital, UFAL, Maceió, Brazil.
authors.forename: E
authors.initials: E
authors.lastname: Lipinski-Figueiredo
authors.affiliation: Department of Molecular Biology, FAMERP, São José do Rio Preto, Brazil.
authors.forename: A C
authors.initials: AC
authors.lastname: Fett-Conte
authors.affiliation: Department of Medical Genetics, UNICAMP, Campinas, Brazil.
authors.forename: R P
authors.initials: RP
authors.lastname: Oliveira Sobrinho
authors.affiliation: Department of Medical Genetics, UNICAMP, Campinas, Brazil.
authors.forename: D Y J
authors.initials: DYJ
authors.lastname: Norato
authors.affiliation: Genetics Unit, IC-HC-USP, São Paulo, Brazil.
authors.forename: A C
authors.initials: AC
authors.lastname: Paula
authors.affiliation: Genetics Unit, IC-HC-USP, São Paulo, Brazil.
authors.forename: C A
authors.initials: CA
authors.lastname: Kim
authors.affiliation: Medical Genetics Service, IMIP, Recife, Brazil.
authors.forename: A R
authors.initials: AR
authors.lastname: Duarte
authors.affiliation: Pediatrics Department, UERJ, Rio de Janeiro, Brazil.
authors.forename: R
authors.initials: R
authors.lastname: Boy
authors.affiliation: Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Rua Ramiro Barcelos, 2350, 90035-903, Porto Alegre, RS, Brazil.
authors.forename: S
authors.initials: S
authors.lastname: Leistner-Segal
authors.affiliation: Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Rua Ramiro Barcelos, 2350, 90035-903, Porto Alegre, RS, Brazil.
authors.forename: M G
authors.initials: MG
authors.lastname: Burin
authors.affiliation: Department of Genetics, UFRGS, Porto Alegre, Brazil.|Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Rua Ramiro Barcelos, 2350, 90035-903, Porto Alegre, RS, Brazil.|Pediatrics Post Graduation Program, School of Medicine, UFRGS, Porto Alegre, Brazil.
authors.forename: R
authors.initials: R
authors.lastname: Giugliani
mesh_terms: D000293:Adolescent; D000328:Adult; D015415:Biomarkers / Q000032:analysis / Q000652:urine; D016022:Case-Control Studies; D004252:DNA Mutational Analysis; D005190:Family; D005192:Family Health; D005260:Female; D006023:Glycoproteins / Q000032:analysis / Q000235:genetics; D006025:Glycosaminoglycans / Q000032:analysis / Q000652:urine; D006579:Heterozygote; D006801:Humans; D008875:Middle Aged; D016532:Mucopolysaccharidosis II / Q000175:diagnosis / Q000235:genetics* / Q000652:urine; D010375:Pedigree; D010808:Physical Examination; D055815:Young Adult
chemical_list: D015415:Biomarkers; D006023:Glycoproteins; D006025:Glycosaminoglycans; C018322:IDS protein, human