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The Hunger Project Bolen Report
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Fabry Disease Print E-mail

Dr. Kennedy Fabry disease is 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. Failure of the finger tips to "prune" on prolonged submersion in water (due to accumulation of lipids) is said to be a sign of Fabry disease. Diagnosis is made by determining the level of plasma alpha-galactosidase A 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.



The information in this article is not meant to be medical advice.�Treatment for a medical condition should come at the recommendation of your personal physician.

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