Article
Case report: is low α-Gal enzyme activity sufficient to establish the diagnosis of Fabry disease?
Jornal brasileiro de nefrologia - 1 Jan 2000
Biagini Gilson, Almeida Ana Clara Simões Flórido, Almeida Tammy Vernalha Rocha, Silva Cassiano Augusto Braga, Castro Bruna Fernanda de, Reche Tais Cristina, Dabinski Ana Cláudia, Barreto Fellype Carvalho
Abstract excerpt
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...
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