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| Pereira,F.S.; Jardim,L.B.; Netto,C.B.; Burin,M.G.; Cecchin,C.; Giugliani,R.; Matte,U.S.. |
| Fabry disease is an X-linked lysosomal disorder due to a-galactosidase A deficiency that causes storage of globotriaosylceramide. The gene coding for this lysosomal enzyme is located on the long arm of the X chromosome, in region Xq21.33-Xq22. Disease progression leads to vascular disease secondary to involvement of kidney, heart and the central nervous system. Detection of female carriers based solely on enzyme assays is often inconclusive. Therefore, mutation analysis is a valuable tool for diagnosis and genetic counseling. Many mutations of the a-galactosidase A gene have been reported with high genetic heterogeneity, being most mutations private found in only one family. The disease is panethnic, and estimates of incidence range from about 1 in 40,000... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Fabry disease; Lysosomal disorders; A-Galactosidase A; Globotriaosylceramide storage; GLA gene. |
| Ano: 2007 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2007001200002 |
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