- paresthesia) or burning pain by adolescence. Red raised lesions known as angiokeratomas occur on the skin and within the mouth.
The ability to sweat is decreased. The cornea and lens of the eye become clouded. There may be painful abdominal crises. Renal impairment may require dialysis or kidney transplant. The kidney failure may cause hypertension. Heart function can be impaired. Females with partial enzyme activity may not show any symptoms or only late in life. Impaired heart function may be their primary problem. Diagnosis is made by determining the level of alpha-galactosidase A in blood plasma or by genetic testing to detect the abnormal gene. Treatment is by enzyme replacement. Twice weekly infusions of recombinant galactosidase A have been found to be safe and effective in clearing deposits from the kidney blood vessels, myocardium (heart muscle), and skin. In August 2001 the European Union granted orphan drug status to two forms of recombinant galactosidase A — Replagal (agalsidase alfa) and Fabrazyme (agalsidase beta) — for long-term enzyme replacement in Fabry disease. In Europe, orphan drug status means no third party can compete with them for 10 years. Neither Replagal nor Fabrazyme had received approval in the United States. The disease is named for the German dermatologist Johannes Fabry who reported it in 1898, the same year as it was described by the English surgeon William Anderson. The disorder is known alternatively as Fabry-Anderson disease, Anderson-Fabry disease, and angiokeratoma corporis diffusum universale.
* * *an X-linked lysosomal storage disease of glycosphingolipid catabolism, resulting from a deficiency of α-galactosidase A, which causes an accumulation of ceramide trihexoside in the cardiovascular and renal systems. Clinical manifestations include telangiectases in the â€œbathing suit area,â€ 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.
Medical dictionary. 2011.
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Fabry disease — ICD10 = E75.2 (ILDS E75.25) Classification and external resources Alpha galactosidase the protein that is deficient in Fabry disease … Wikipedia
Fabry disease — Fabry disease. См. болезнь Фабри. (Источник: «Англо русский толковый словарь генетических терминов». Арефьев В.А., Лисовенко Л.А., Москва: Изд во ВНИРО, 1995 г.) … Молекулярная биология и генетика. Толковый словарь.
Fabry disease — (= angiokeratoma) Storage disease due to deficiency of ceramide trihexosidase … Dictionary of molecular biology
Fabry disease — n. genetic disease of deficiency of alpha galactosidase A enzyme … English contemporary dictionary
Anderson-Fabry disease — 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
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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
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 — n. family name; Johannes Fabry (1860 1930), German dermatologist (Fabry disease named after him); large lunar crater … English contemporary dictionary
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