Fabry's disease is a rare X-linked lysosomal storage disorder leading to an accumulation of globotriaosylceramides in the lysosomes of all tissues. As the accumulation occurs in all organs, different medical faculties are involved in the diagnostics and therapy of Fabry's disease. With this review the three main faculties (cardiology, nephrology and neurology) as well as the adjacent faculties (ophthalmology and dermatology) want to discuss the division-related function and also to suggest an organ-related additional therapy besides enzyme replacement therapy.
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Objective: Whereas a few studies have evaluated vestibular involvement in Fabry disease (FD), the relationship between vestibular/oculomotor abnormalities and disease-specific biomarkers remain unclear. Therefore, we seek to evaluate these quantitatively and analyze their relationship with disease phenotype and biomarkers in FD.
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Institute for Biomedical Research and Innovation (IRIB), National Research Council (CNR), 90146 Palermo, Italy.
Anderson-Fabry disease is a hereditary, progressive, multisystemic lysosomal storage disorder caused by a functional deficiency of the enzyme α-galactosidase A (α-GalA). This defect is due to mutations in the gene, located in the long arm of the X chromosome (Xq21-22). Functional deficiency of the α-GalA enzyme leads to reduced degradation and accumulation of its substrates, predominantly globotriaosylceramide (Gb3), which accumulate in the lysosomes of numerous cell types, giving rise to the symptomatology.
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