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Title: Clinical and biochemical study of 28 patients with mucopolysaccharidosis type VI
Authors: Azevedo, ACMM
Schwartz, IV
Kalakun, L.
Brustolin, S.
Burin, M. G.
Beheregaray, APC
Leistner, S.
Giugliani, C.
Rosa, M.
Barrios, P.
Marinho, D.
Esteves, P.
Valadares, E.
Boy, R.
Horovitz, D.
Mabe, P.
Silva, LCS da
Souza, ICN de
Ribeiro, M.
Martins, A. M.
Palhares, D.
Kim, C. A.
Giugliani, R.
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)
Keywords: arylsulfatase B
inborn errors of metabolism
lysosomal storage diseases
Maroteaux-Lamy syndrome
mucopolysaccharidosis type VI
Issue Date: 1-Sep-2004
Publisher: Blackwell Munksgaard
Citation: Clinical Genetics. Copenhagen: Blackwell Munksgaard, v. 66, n. 3, p. 208-213, 2004.
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.
ISSN: 0009-9163
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