Webster's Online Dictionary
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Specialty Expressions: FABRY DISEASE

ExpressionsDomainDefinition
Fabry diseaseGeologyAn X-linked genetic disease in which the gene coding for the enzyme alpha-galactosidase A (a type of galactosidase) is nonfunctional. As a result, sphingolipid and glycolipid compounds accumulate in the blood vessel walls of people with the disease, eventually causing vascular malfunctions. (references)
Fabry DiseaseHealthLysosomal 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 X-linked and is characterized by telangiectatic skin lesions, renal failure, and disturbances of the cardiovascular, gastrointestinal, and central nervous systems. (references)

Source: compiled by the editor from various references; see credits.

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