Fabry's disease

Fabry's disease

also called  Angiokeratoma Corporis Diffusum,  

      sex-linked hereditary disease in which a deficiency in the enzyme alpha-galactosidase A results in abnormal deposits of a glycosphingolipid (ceramide trihexoside) in the blood vessels. These deposits in turn produce heart and kidney disturbances resulting in a marked reduction in life expectancy. Distinctive clusters of dark red granules in the skin on the abdomen and knees of victims led early students of the disease to consider it a skin disorder, as the alternative name reflects; later findings indicated the kidney involvement and blood lipid deposits that are the more significant characteristics of the disease. Treatment attempts have been aimed primarily at relief of the intense burning pain typical of the disease. Kidney failure is the most common cause of death, which occurs at an average age of 40 in the predominantly male victims.

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Universalium. 2010.

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  • Fabry's disease — DiseaseDisorder infobox Name = Fabry disease ICD10 = ICD10|E|75|2|e|70 (ILDS E75.25) ICD9 = ICD9|272.7 ICDO = Caption = OMIM = 301500 OMIM mult = MedlinePlus = eMedicineSubj = neuro eMedicineTopic = 579 DiseasesDB = 4638 MeshID = D000795 Fabry… …   Wikipedia

  • Fabry's disease — Fa·bry s disease fäb rēz n a disorder of lipid metabolism that is inherited as an X linked recessive trait and is characterized by skin lesions esp. on the lower trunk, severe pain in the extremities, corneal opacities, and vascular disease… …   Medical dictionary

  • fabry's disease — ˈfäbrēz noun Usage: usually capitalized F Etymology: after Johannes Fabry died 1930 German dermatologist : a disorder of lipid metabolism that is inherited as an X linked recessive trait and is characterized by skin lesions especially on the… …   Useful english dictionary

  • Fabry's disease — see angiokeratoma [Fabry (1860–1930), German dermatologist] …   The new mediacal dictionary

  • Fabry disease — ICD10 = E75.2 (ILDS E75.25) Classification and external resources Alpha galactosidase the protein that is deficient in Fabry disease …   Wikipedia

  • Fabry — can refer to the following:*Charles Fabry French physicist, inventor of the Fabry Perot etalon *Fabry s diseaseFabri can refer to the following:*Martinus Fabri a Dutch composer *Thomas Fabri a Dutch (Franco flemish) composer …   Wikipedia

  • Disease, Anderson-Fabry — A genetic disease, also known as Fabry disease, due to deficiency of an enzyme called alpha galactosidase A. This enzyme is essential to the metabolism of molecules known as glycosphingolipids. Without the enzyme, glycosphingolipids accumulate in …   Medical dictionary

  • Fabry disease — A genetic disease due to deficiency of an enzyme called alpha galactosidase A. This enzyme is essential to the metabolism of molecules known as glycosphingolipids. Without the enzyme, glycosphingolipids accumulate in the kidneys, heart, nerves… …   Medical dictionary

  • Disease, Fabry — A genetic disease due to deficiency of an enzyme called alpha galactosidase A. This enzyme is essential to the metabolism of molecules known as glycosphingolipids. Without the enzyme, glycosphingolipids accumulate in the kidneys, heart, nerves… …   Medical dictionary

  • Fabry-Anderson-Krankheit — Klassifikation nach ICD 10 E75.2 Sonstige Sphingolipidosen (incl. Morbus Fabry) …   Deutsch Wikipedia

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