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Fabrys disease

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Fabrys disease

(Science: disease) Lysosomal storage disease caused by a deficiency of alpha-galactosidase a and resulting in an accumulation of globotriaosylceramide in the renal and cardiovascular systems.

The disease is characterised by telangiectatic skin lesions, renal failure, and disturbances of the cardiovascular, gastrointestinal, and central nervous systems.

Inheritance: x-linked.