|
Fabry's disease
|
(Fa
출처: www.mercksource.com/pp/us/cns/cns_hl_dorlands.jspz...
|
|---|---|
|
Fabry's disease
|
Fabry's disease (also known as Anderson-Fabry Disease, Angiokeratoma Corporis Diffusum and Hereditary Dystopic Lipidosis) is a lysosomal storage disease resulting from an X-linked mutation. The mutation causes a deficiency in alpha galactosidase A which is important in lipid catabolism. This leads to the accumulation of ceramide trihexoside in the cardiovascular and renal systems. ...
출처: en.wikipedia.org/wiki/Fabry's_disease
|
|
Fabry's d.
|
an X-linked lysosomal storage disease of glycosphingolipid catabolism, resulting from a deficiency of α-galactosidase A and leading to accumulation of ceramide trihexoside in the cardiovascular and renal systems. Clinical manifestations include telangiectases in the “bathing suit area,” corneal opacities, burning pain in the palms, soles, and abdomen, chronic paresthesias of the hands and feet, cardiopulmonary involvement, edema of the legs, osteoporosis, retarded growth, and delayed puberty. Patients usually die of renal failure or cardiac or cerebrovascular disease. Called also angiokeratoma corporis diffusum, diffuse angiokeratoma, α-galactosidase A deficiency, and ceramide trihexosidase deficiency.
출처: www.mercksource.com/pp/us/cns/cns_health_library.j...
|