6 research outputs found
Comprehensive Primary Health Care in South America: contexts, achievements and policy implications
Case report: is low α-Gal enzyme activity sufficient to establish the diagnosis of Fabry disease?
Abstract Fabry disease is an X-linked lysosomal storage disease due to alpha-galactosidase A (α-Gal A) deficient activity which leads to the accumulation of glucoesphingolipids, such as globotriaosilceramide. There are over 700 known mutations of the enzyme gene, and most of them cause Fabry Disease. This case report describes a hemodialysis patient with a rare and controversial GLA gene mutation, the D313Y. The medecial investigation confirmed that D313Y is an alpha-galactosidase A sequence variant that causes pseudo deficient enzyme activity in plasma but not Fabry disease. Thus, clinical symptoms that prompted Fabry disease investigation could not be attributable to Fabry disease and therefore enzyme replacement therapy was not indicated
Guidelines to Diagnosis and Monitoring of Fabry Disease and Review of Treatment Experiences
Universidade Federal de SĂŁo Paulo, Ctr Referencia Erros Inatos Metab, SĂŁo Paulo, BrazilUniv Fed Rio de Janeiro, Rio de Janeiro, BrazilUnureste Presidente Prudente, SĂŁo Paulo, BrazilHosp Beneficiencia Portuguesa, SĂŁo Paulo, BrazilHosp Sao Lucas Curitiba, Curitiba, Parana, BrazilAPAE Salvador, Salvador, BA, BrazilUniv SĂŁo Paulo, SĂŁo Paulo, BrazilClin Censi Guimaraes, SĂŁo Paulo, BrazilInst Hemodialise Sorocaba, SĂŁo Paulo, BrazilCentroCard, Brasilia, DF, BrazilHosp Sao Vicente de Paula, Passo Fundo, BrazilUniv Fed Fluminense, BR-24220000 Niteroi, RJ, BrazilPam Heliopolis, SĂŁo Paulo, BrazilCentrocor, Belem, Para, BrazilUniv Fed Juiz de Fora, Juiz de Fora, BrazilUniversidade Federal de SĂŁo Paulo, Ctr Referencia Erros Inatos Metab, SĂŁo Paulo, BrazilWeb of Scienc