| Tóm tắt: | Fabry disease (FD) is a lysosomal disorder caused by mutations in the GLA gene coding for α‑galactosidase A (α‑GalA). These mutations lead to the accumulation of α‑GalA substrates, including globotriaosylceramide (Gb3). As a consequence of lipid storage, Fabry patients can suffer from neuropathic pain, impaired kidney function and cardiomyopathy. Existing treatments for FD either require bi-weekly intravenous infusions of replacement enzyme, or are effective in a limited number of patients with specific “amenable” mutations. Substrate reduction therapy (SRT) with lucerastat, an orally-available small molecule inhibitor of glucosylceramide synthase (GCS) to reduce Gb3 accumulation is an alternative mechanism, that would be suitable for all FD patients.
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