Our Fabry disease Main Article provides a comprehensive look at the who, what, when and how of Fabry disease

Definition of Fabry disease

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.

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