What is Fabry disease?

Question

What are the symptons?
What are the missing enzymes?
What are the functions of the missing enzymes?

Answer 1

Fabry disease is caused by the lack of or faulty enzyme needed to metabolize lipids, fat-like substances that include oils, waxes, and fatty acids.

A mutation in the gene that controls this enzyme causes insufficient breakdown of lipids, which build up to harmful levels in the eyes, kidneys, autonomic nervous system, and cardiovascular system. Since the gene that is altered is carried on a mother’s X chromosome, her sons have a 50 percent chance of inheriting the disorder and her daughters have a 50 percent chance of being a carrier.

Symptoms usually begin during childhood or adolescence and include burning sensations in the hands that gets worse with exercise and hot weather and small, raised reddish-purple blemishes on the skin. Some boys will also have eye manifestations, especially cloudiness of the cornea. Lipid storage may lead to impaired arterial circulation and increased risk of heart attack or stroke. The heart may also become enlarged and the kidneys may become progressively involved. Other symptoms include decreased sweating, fever, and gastrointestinal difficulties, particularly after eating. Some female carriers may also exhibit symptoms. Fabry disease is one of several lipid storage disorders.

THERE IS A TREATMENT
FDA aprroved Enzyme replacement therapy April 2003

An effctive enzyme replacement therapy for Fabry disease is available. A blood test is all that is neccessary to find out if an individual has Fabry disease.

Answer 2

It's a genetically-linked fat storage disorder. You lack an enzyme that breaks down fats.

Symptoms of this condition depend on the level of enzyme deficiency. Males are usually the most severely affected and, in patients with complete enzyme deficiency, symptoms develop in childhood or adolescence. Pain and abnormal feelings occur in the extremities. 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. Later, kidney failure occurs which secondarily causes hypertension. Heart function can also be impaired.

Patients with partial enzyme activity may not show any symptoms or they may begin late in life. The impaired heart function is typically the primary problem.

The missing enzyme can be replaced by infusions of recombinant galactosidase A.

Answer 3

sex-linked hereditary disease in which a deficiency in the enzyme alpha-galactosidase A results in abnormal deposits of a glycosphingolipid (ceramide trihexoside) in the blood vessels. These deposits in turn produce heart and kidney disturbances resulting in a marked reduction in life expectancy. Distinctive clusters of dark red granules in the skin on the abdomen and knees of victims led early students of the disease to consider it a skin disorder, as the alternative name reflects; later findings indicated the kidney involvement and blood lipid deposits that are the more significant characteristics of the disease. Treatment attempts have been aimed primarily at relief of the intense burning pain typical of the disease. Kidney failure is the most common cause of death, which occurs at an average age of 40 in the predominantly male victims.

Answer 4

See http://www.ninds.nih.gov/disorders/fabrys/fabrys.htm

Answer 5

www.webmd.com

it's amazing, and works for everything!