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Fabry disease


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(Anderson-Fabry disease) an inherited disorder – an X-linked recessive condition (see sex-linked) – characterized by deficiency of the enzyme α-galactosidase. It causes accumulation of glycosphingolipid (see cerebroside) in the body, leading to prominent and progressive involvement of the skin (with the formation of angiokeratomas), heart, kidneys, and nervous system. The disease is treated with genetically engineered enzyme replacement therapy. J. Fabry (1860–1930), German dermatologist

Subjects: Genetics and Genomics — Medicine and Health.


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