Open Access5th Update on Fabry Nephropathy: Biomarkers, Progression and Treatment Opportunities. April 25-27, 2017, Mexico City, Mexico: Abstracts
Author(s) -
Welford, RWD,
Mühleman, A,
Priestman, D,
Garzotti, M,
Deymier, C,
Ertel, EA,
Iglarz, M,
Morand, O,
Priestman, D,
Platt, FM,
Probst, M
Publication year - 2017
Publication title -
the nephron journals/nephron journals
Language(s) - English
Resource type - Journals
eISSN - 2235-3186
pISSN - 1660-8151
DOI - 10.1159/000475511
Subject(s) - medicine , fabry disease , mexico city , nephropathy , gerontology , endocrinology , disease , diabetes mellitus , humanities , philosophy
Fabry disease (FD) is a lysosomal storage 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 with lucerastat, an orally-available small molecule inhibitor of glucosylceramide synthase (GCS)1 is an alternative mechanism to reduce Gb3 accumulation, that would be suitable for all FD patients