Definition of Fabry disease
< b>Fabry disease: A genetic disease due to deficiency of the enzyme 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
and throughout the body.
Males with Fabry disease are more severely affected than females since the gene
for Fabry disease is on the X chromosome. Males have only one X while females have
a second X and therefore some enzyme activity.
Boys with Fabry disease usually have discomfort of the hands and feet with abnormal
sensation (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 (1860-1930)
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, angiokeratoma corporis diffusum universale, and alpha-galactosidase
A deficiency (GLA deficiency).
Common Misspellings: fabry diease, fabry desease
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