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Rio de Janeiro, Brazil

Pinheiro M.L.,University of Fortaleza | Arruda A.P.,Genetica Medica | Arruda A.P.,State University of Ceara | Ribeiro E.M.,Disciplina de Genetica Medica | Ribeiro E.M.,Federal University of Rio Grande do Norte
Revista Brasileira de Medicina | Year: 2011

Fabry disease is an X-linked inborn error of glycosphingolipid catabolism resulting from deficient or absent activity of the lysosomal enzyme alpha-galactosidase A. This enzymatic defect leads to the systemic accumulation of globotriaoslyceramide (Gb3) and related glycosphingolipids in the plasma and cellular lysosomes throughout the body. The disease usually presents in childhood, is progressive, and results in increasing disability and premature death. Female carriers tend to be less severely affected. The clinical diagnosis is sometimes difficult due to the several and heterogeneous manifestations. The confirmation of the disease is based on the levels of the enzyme and in the molecular biology. The prognostic is related to renal, cardiovascular and neurological complications. Treatment was formerly entirely symptomatic, but enzyme replacement therapy it is already a reality and it can change the course of the disease. © Copyright Moreira Jr. Editora. Todos os direitos reservados. Source

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