What is Fabrys Disease?
Fabry’s disease is a fat storage disorder caused by a deficiency of an enzyme involved in the biodegradation of lipids. The gene that is altered in this disorder is on the X-chromosome, so only the mother needs to be a carrier to produce an affected child. Her sons have a 50 percent chance of having the condition, and her daughters have a 50 percent chance of being a carrier. Some of the female carriers exhibit signs of the condition, especially cloudiness of the cornea. In addition to the eye manifestations, males characteristically have burning sensations in their hands and feet that is worse with exercise and hot weather. Most of the males have small, raised, reddish-purple blemishes on their skin. As they grow older, they may have impaired arterial circulation leading to early heart attacks and strokes. The kidneys become progressively involved, and many patients have required kidney transplantation or dialysis. A number of patients have gastrointestinal difficulties characterized
