Please use this identifier to cite or link to this item:
Title: Clinical and biochemical study of 29 Brazilian patients with metachromatic leukodystrophy
Authors: Artigalas, Osvaldo
Lagranha, Valeska Lizzi
Saraiva-Pereira, Maria Luiza
Burin, Maira Graeff
Lourenco, Charles Marques
Van der Linden, Helio
Santos, Mara Lucia Ferreira
Rosemberg, Sergio
Steiner, Carlos Eduardo
Kok, Fernando
De Souza, Carolina F. Moura
Jardim, Laura B.
Giugliani, Roberto
Schwartz, Ida Vanessa
Univ Fed Rio Grande do Sul
Universidade de São Paulo (USP)
Ctr Disabil & Rehabil Dr Henr Santillo
Hosp Pequeno Principe Hosp
Universidade Federal de São Paulo (UNIFESP)
Universidade Estadual de Campinas (UNICAMP)
Hosp Clin Porto Alegre
Issue Date: 1-Dec-2010
Publisher: Springer
Citation: Journal of Inherited Metabolic Disease. Dordrecht: Springer, v. 33, p. S257-S262, 2010.
Abstract: Metachromatic leukodystrophy (MLD) is a lysosomal disorder caused by arylsulfatase A (ARSA) deficiency. It is classified into three forms according to the age of onset of symptoms (late infantile, juvenile, and adult). We carried out a cross-sectional and retrospective study, which aimed to determine the epidemiological, clinical, and biochemical profile of MLD patients from a national reference center for Inborn Errors of Metabolism in Brazil. Twenty-nine patients (male, 17) agreed to participate in the study (late infantile form: 22; juvenile form: 4; adult form: 1; asymptomatic: 2). Mean ages at onset of symptoms and at biochemical diagnosis were, respectively, 19 and 39 months for late infantile form and 84.7 and 161.2 months for juvenile form. the most frequently reported first clinical symptom/sign of the disease was gait disturbance and other motor abnormalities (72.7%) for late infantile form and behavioral and cognitive alterations (50%) for juvenile form. Leukocyte ARSA activity level did not present significant correlation with the age of onset of symptoms (r=- 0.09, p=0.67). Occipital white matter and basal nuclei abnormalities were not found in patients with the late infantile MLD. Our results suggest that there is a considerable delay between the age of onset of signs and symptoms and the diagnosis of MLD in Brazil. Correlation between ARSA activity and MLD clinical form was not found. Further studies on the epidemiology and natural history of this disease with larger samples are needed, especially now when specific treatments should be available in the near future.
ISSN: 0141-8955
Other Identifiers:
Appears in Collections:Em verificação - Geral

Files in This Item:
There are no files associated with this item.

Items in DSpace are protected by copyright, with all rights reserved, unless otherwise indicated.