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All Diseases > Fabry Disease
Alternative Names: Alpha-Galactosidase A Deficiency; Anderson-Fabry Disease; Angiokeratoma Corporis Diffusum; Angiokeratoma Diffuse; GLA Deficiency
Disease Category: Lysosomal Diseases
A rare, X-linked (found on the X chromosome), inherited, lysosomal disorder, caused by a missing or abnormal enzyme that cannot break down globotriasylceramides (cell surface receptors containing fats with sugar molecules attached). Symptoms manifest in childhood, including acroparesthesias (numbness or sensory changes especially in the fingers and toes), hypohydrosis (decreased sweating capacity), gastrointestinal problems, tinnitus (ringing in the ears), hearing loss, corneal opacity or verticillata (scarring or a whorl-like, golden-brown or gray pattern on the clear surface of the eyes, respectively), and angiokeratomas (enlarged blood vessels causing dark, red skin spots). Severe symptoms include kidney disease, heart attack, and stroke.
Research groups studying this disease
Lysosomal Disease Network (LDN)
This proposal aims to study the natural history and ERT effect on cardiac and vascular tissue in Fabry disease using unbiased quantitative validated morphometric approaches with functional and imaging correlations. These studies will substantially improve our understanding of the pathophysiology of cardiovascular and renal complications in Fabry and can introduce new approaches to quantify treatment response in cardiomyocytes and arteriol smooth muscle cells, with potential application in clinical trials and at the bedside. In addition to these histomorphometric studies, we propose to study autonomic dysfunction, a common complication in FD patients that is not well characterized, and the effect of ERT on this complication. The novel nature of this study lies in the analysis of tissues samples in a heretofore unused method that correlates tissue analysis with medical data to make determinations of kidney, cardiac, and skin tissue damage in Fabry disease.
Unites and supports the Australian Fabry community.
Encourages and supports research into the causes, treatment, and management of Fabry disease.
Supports the needs of the Fabry disease community by providing information, education, and advocacy.
Assists with disease education, diagnosis, support, research, and advovcacy for the Fabry disease community.