Clinical and biochemical study of 28 patients with mucopolysaccharidosis type VI

Clinical and biochemical study of 28 patients with mucopolysaccharidosis type VI

Author Azevedo, ACMM Google Scholar
Schwartz, IV Google Scholar
Kalakun, L. Google Scholar
Brustolin, S. Google Scholar
Burin, M. G. Google Scholar
Beheregaray, APC Google Scholar
Leistner, S. Google Scholar
Giugliani, C. Google Scholar
Rosa, M. Google Scholar
Barrios, P. Google Scholar
Marinho, D. Google Scholar
Esteves, P. Google Scholar
Valadares, E. Google Scholar
Boy, R. Google Scholar
Horovitz, D. Google Scholar
Mabe, P. Google Scholar
Silva, LCS da Google Scholar
Souza, ICN de Google Scholar
Ribeiro, M. Google Scholar
Martins, A. M. Google Scholar
Palhares, D. Google Scholar
Kim, C. A. Google Scholar
Giugliani, R. Google Scholar
Institution Hosp Clin Porto Alegre
Universidade Federal de Minas Gerais (UFMG)
Universidade do Estado do Rio de Janeiro (UERJ)
Fiocruz MS
Fed Univ Para
Universidade Federal do Rio de Janeiro (UFRJ)
Universidade Federal de São Paulo (UNIFESP)
Fed Univ Mato Grosso do Sol
Universidade de São Paulo (USP)
Abstract This paper presents data collected by a Brazilian center in a multinational multicenter observational study of patients with mucopolysaccharidosis type VI (MPS VI), aiming at determining the epidemiological, clinical, and biochemical profile of these patients. Twenty-eight south-American patients with MPS VI were evaluated through medical interview, physical exam, echocardiogram, electrocardiogram, ophthalmologic evaluation, quantification of glycosaminoglycans (GAGs) in urine, and measurement of the activity of N-acetylgalactosamine-4-sulfatase (ARSB) in leukocytes. 92.9% of patients were Brazilian. Mean age at diagnosis and at evaluation was 48.4 months and 97.1 months, respectively. 88% of patients had onset of symptomatology before the age of 36 months. Consanguinity was reported by 27% of the families. Mean weight and height at birth were 3.481 kg and 51.3 cm, respectively. the most frequently reported clinical manifestations were short stature, corneal clouding, coarse facial features, joint contractures, and claw hands. All patients presented with echocardiogram changes as well as corneal clouding. Mean ARSB activity in leukocytes was 5.4 nmoles/h/mg protein (reference values: 72-174), and urinary excretion of GAGs was on average 7.9 times higher than normal. the number of clinical manifestations did not show a significant correlation with the levels of urinary GAGs nor with the ARSB activity. Also, no significant correlation was found between the levels of urinary GAGs and the ARSB activity. It was concluded that MPS VI has high morbidity and that, when compared with data published in the literature, patients in our study were diagnosed later and presented with a higher frequency of cardiological findings.
Keywords arylsulfatase B
inborn errors of metabolism
lysosomal storage diseases
Maroteaux-Lamy syndrome
mucopolysaccharidosis type VI
Language English
Date 2004-09-01
Published in Clinical Genetics. Copenhagen: Blackwell Munksgaard, v. 66, n. 3, p. 208-213, 2004.
ISSN 0009-9163 (Sherpa/Romeo, impact factor)
Publisher Blackwell Munksgaard
Extent 208-213
Access rights Closed access
Type Article
Web of Science ID WOS:000223470000008

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