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 São Paulo, Ctr Referencia Erros Inatos Metab, São Paulo, BrazilUniv Fed Rio de Janeiro, Rio de Janeiro, BrazilUnureste Presidente Prudente, São Paulo, BrazilHosp Beneficiencia Portuguesa, São Paulo, BrazilHosp Sao Lucas Curitiba, Curitiba, Parana, BrazilAPAE Salvador, Salvador, BA, BrazilUniv São Paulo, São Paulo, BrazilClin Censi Guimaraes, São Paulo, BrazilInst Hemodialise Sorocaba, São Paulo, BrazilCentroCard, Brasilia, DF, BrazilHosp Sao Vicente de Paula, Passo Fundo, BrazilUniv Fed Fluminense, BR-24220000 Niteroi, RJ, BrazilPam Heliopolis, São Paulo, BrazilCentrocor, Belem, Para, BrazilUniv Fed Juiz de Fora, Juiz de Fora, BrazilUniversidade Federal de São Paulo, Ctr Referencia Erros Inatos Metab, São Paulo, BrazilWeb of Scienc