Fábio Fernandes et al. Murillo Oliveira Antunes Viviane Tiemi Hotta Carlos Eduardo Rochitte Charles Mady
Fabry Disease
Fabry’s disease FD is a genetic, lysosomal storage disorder caused by total or partial alpha-galactosidase (α-Gal A) deficiency of the enzyme that degrades glycolipid globotriaosylceramide (Gb3) in lysosomes. Therefore Gb3 deposits accumulate in the endothelial cells and heart, resulting in organic dysfunction. The gene that causes FD is located in the long arm of the X chromosome (locus Xq22) and currently hundreds of pathogenic mutations have been described. Thus, male homozygous patients develop the classic disease, while female heterozygous patients present variable clinical manifestations from conditions without apparent clinical disease to the complete expression of the disease.–
In clinical practice, early diagnosis is important because actually there are specific treatment with enzyme replacement therapy (ERT) that may change the natural history, reducing and/or stabilizing the progression of the disease.,
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