Fabry Disease

Fabry disease causes a build-up of a fatty substance

Molecular

Fabry disease is caused by mutations in the GLA gene. This gene provides instructions for making an enzyme called alpha-galactosidase A. This condition is X-Linked which means that females will have less severe symptoms than males because they have two copies of the "X" chromosome and the male has One "X" and one "Y". This enzyme is active in lysosomes, which are structures that serve as recycling centers within cells. This condition is X-Linked which means that females will have less severe symptoms than males because they have two copies of the "X" chromosome and the male has One "X" and one "Y".

Biochemical

Alpha-galactosidase A normally breaks down a fatty substance in the body. Mutations in the GLA gene affect the structure and function of the enzyme, preventing it from breaking down this substance effectively. As a result, the fatty substance builds up in cells throughout the body, particularly cells lining blood vessels in the skin and cells in the kidneys, heart, and nervous system. Accumulation of this substance damages cells, leading to all of the signs and symptoms of Fabry disease.

Organismal

Characteristic features of Fabry disease include different episodes of pain, particularly in the hands and feet; clusters of small, dark red spots on the skin called angiokeratomas; a decreased ability to sweat (hypohidrosis); cloudiness of the front part of the eye (corneal opacity); problems with the gastrointestinal system; ringing in the ears (tinnitus); and hearing loss. Fabry disease also involves potentially life-threatening complications such as progressive kidney damage, heart attack, and stroke. Some affected individuals have milder forms of the disorder that appear later in life and affect only the heart or kidneys.

Treatments

Be prescribed drugs to relieve pain. Medicine for drug problems, Blood thinners if there are any heart problems. Or a kidney transplant, if the kidneys have had any damage from the disease.
Fabry disease

Organismal Interesting Facts

1. Fabry disease affects an estimated 1 in 40,000 to 60,000 males.
2. Female heterozygotes have a 50 percent risk of transmitting the disease to each of their children, both daughters and sons, with each pregnancy.