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CLINICAL AND BIOCHEMICAL STUDY OF 28 PATIENTSWITH MUCOPOLYSACCHARIDOSIS TYPE VI
Azevedo, A. C. M. M. et al. | Date Issued: 2004
Author
Azevedo, A. C. M. M.
Schwartz, I. V.
Kalakun, L.
Brustolin, S.
Burin, Maira G.
Beheregaray, A. P. C.
Leistner, S.
Giugliani, C.
Rosa, M.
Barrios, P.
Marinho, D.
Esteves, P.
Valadares, E.
Boy, R.
Horovitz, Dafne Dain Gandelman
Mabe, P.
Silva, L. C. S. da
Souza, I. C. N. de
Ribeiro, M.
Martins, A. M.
Palhares, D.
Kim, C. A.
Giugliani, R.
Affilliation
Hospital das Clinicas de Porto Alegre. Serviço de Genética Médica. Grupo de Estudo MPS. Porto Alegre, RS, Brasil.
Hospital das Clinicas de Porto Alegre. Serviço de Genética Médica. Grupo de Estudo MPS. Porto Alegre, RS, Brasil.
Hospital das Clinicas de Porto Alegre. Serviço de Genética Médica. Grupo de Estudo MPS. Porto Alegre, RS, Brasil.
Hospital das Clinicas de Porto Alegre. Serviço de Genética Médica. Grupo de Estudo MPS. Porto Alegre, RS, Brasil.
Hospital das Clinicas de Porto Alegre. Serviço de Genética Médica. Grupo de Estudo MPS. Porto Alegre, RS, Brasil.
Hospital das Clinicas de Porto Alegre. Serviço de Genética Médica. Grupo de Estudo MPS. Porto Alegre, RS, Brasil.
Hospital das Clinicas de Porto Alegre. Serviço de Genética Médica. Grupo de Estudo MPS. Porto Alegre, RS, Brasil.
Hospital das Clinicas de Porto Alegre. Serviço de Genética Médica. Grupo de Estudo MPS. Porto Alegre, RS, Brasil.
Hospital das Clinicas de Porto Alegre. Serviço de Genética Médica. Grupo de Estudo MPS. Porto Alegre, RS, Brasil.
Hospital das Clinicas de Porto Alegre. Serviço de Genética Médica. Grupo de Estudo MPS. Porto Alegre, RS, Brasil.
Hospital das Clinicas de Porto Alegre. Serviço de Genética Médica. Grupo de Estudo MPS. Porto Alegre, RS, Brasil.
Hospital das Clinicas de Porto Alegre. Serviço de Genética Médica. Grupo de Estudo MPS. Porto Alegre, RS, Brasil.
Universidade Federal de Minas Gerais. Departamento de Pediatria. Belo Horizonte, BH, Brasil.
Universidade do Estado do Rio de Janeiro, Departamento de Pediatria. Rio de Janeiro, RJ, Brasil.
Fundação Oswaldo Cruz. Instituto Fernandes Figueira. Rio de Janeiro, RJ, Brasil.
INTA, Santiago, Chile.
Universidade Federal do Pará. Departamento de Fisiologia. Laboratório de Erros Inatos no Metabolismo. Belém, PA, Brasil.
Universidade Federal do Rio de Janeiro. Instituto de Puericultura e Pediatria Martagão Gesteira. Rio de Janeiro, RJ, Brasil.
UNIFESP. EPM. Departamento de Pediatria. São Paulo, SP, Brasil.
Universidade Federal do Mato Grosso do Sul. Campo Grande, MS, Brasil.
HC-FM-USP. Instituto da Criança. São Paulo, SP, Brasil.
Hospital das Clinicas de Porto Alegre. Serviço de Genética Médica. Grupo de Estudo MPS. Porto Alegre, RS, Brasil.
Abstract
This paper presents data collected by a Brazilian center in amultinational multicenter observational study of patients withmucopolysaccharidosis type VI (MPS VI), aiming at determining theepidemiological, clinical, and biochemical profile of these patients.Twenty-eight south-American patients with MPS VI were evaluatedthrough medical interview, physical exam, echocardiogram,electrocardiogram, ophthalmologic evaluation, quantification ofglycosaminoglycans (GAGs) in urine, and measurement of the activityof N-acetylgalactosamine-4-sulfatase (ARSB) in leukocytes. 92.9percent ofpatients were Brazilian. Mean age at diagnosis and at evaluation was48.4 months and 97.1 months, respectively. 88 percent of patients had onset ofsymptomatology before the age of 36 months. Consanguinity wasreported by 27 percent of the families. Mean weight and height at birth were3.481 kg and 51.3 cm, respectively. The most frequently reported clinicalmanifestations were short stature, corneal clouding, coarse facialfeatures, joint contractures, and claw hands. All patients presented withechocardiogram changes as well as corneal clouding. Mean ARSBactivity in leukocytes was 5.4nmoles/h/mg protein (reference values:72 174), and urinary excretion of GAGs was on average 7.9 times higherthan normal. The number of clinical manifestations did not show asignificant correlation with the levels of urinary GAGs nor with theARSB activity. Also, no significant correlation was found between thelevels of urinary GAGs and the ARSB activity. It was concluded thatMPS VI has high morbidity and that, when compared with datapublished in the literature, patients in our study were diagnosed laterand presented with a higher frequency of cardiological findings.
Keywords
Arylsulfatase B
Inborn Errors of Metabolism
Lysosomal Storage Diseases
Maroteaux
Lamy Syndrome
Mucopolysaccharidoses
Mucopoly
Saccharidosis type V
 
DeCS
Brasil - epidemiologia
Mucopolissacaridose VI - epidemiologia
Chile - epidemiologia
Fenótipo
Ecocardiografia
Entrevistas como Assunto
Eletrocardiografia
Glicosaminoglicanas - urina
Chile - epidemiologia
 
Citation
AZEVEDO, ACMM et al. Clinical and biochemical study of 28 patients with mucopolysaccharidosis type VI. Clin. Genet., Copenhagen, v. 66, n. 3, p. 208-213, 2004.
ISSN
0009-9163