Case report: is low α-Gal enzyme activity sufficient to establish the diagnosis of Fabry disease?

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...

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Bibliographic Details
Main Authors: Gilson Biagini, Ana Clara Simões Flórido Almeida, Tammy Vernalha Rocha Almeida, Cassiano Augusto Braga Silva, Bruna Fernanda de Castro, Tais Cristina Reche, Ana Cláudia Dabinski, Fellype Carvalho Barreto
Format: Article
Language:English
Published: Sociedade Brasileira de Nefrologia
Series:Brazilian Journal of Nephrology
Subjects:
doença de Fabry
diagnóstico
doenças genéticas ligadas ao cromossomo X
alfa-galactosidase
diálise renal
mutação
Online Access:http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0101-28002017000300333&lng=en&tlng=en

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