Question 1

what is fabry disease?

Accepted Answer

A genetic disorder: Fairy is an x- linked  metabolic disorder due to a deficiency of an enzyme(galactosidase a).  So a compound of suger and fatty acid which is usually breaks down by the enzyme in normal people will accumulate in blood vessels and organs of the  affected person and cause symptom off pain, fatigue, dark red skin rash(angiokeratomas)  and it slowly progresses to kidney, heart and neurological problem.

Question 2

what is fabry disease like?

Accepted Answer

Can be treated: Enzyme replacement therapy holds promise and  has been fda approved. Symptoms  begin during childhood  and include burning sensations in the hands that gets worse with exercise and hot weather and small raised reddish-purple blemishes on the skin.  Eye signs include cloudy cornea.  Lipid storage may lead to poor circulation, increased risk of heart attack, stroke, kidney disease.

Question 3

is there a cure fabry disease?

Accepted Answer

Not yet: Hang in there, recent research suggests some amazing breakthroughs are on the way.  Google the disease and contact the major research centers.

Question 4

what is "anderson-fabry" disease?

Accepted Answer

Same as Fabry: Still an inborn error of metabolism 

http://www.Ninds.Nih.Gov/disorders/fabrys/fabrys.Htm.

Question 5

what are the tests for fabry disease?

Accepted Answer

Blood test: If the disease is suspected then the genetic tests can be done to look for the x linked galactosidase a enzyme deficiency.

Question 6

does fabry disease affect only males?

Accepted Answer

Fabry disease: Fabry disease is a hereditary disease and transmitted as x-linked recessive, meaning that the carrier mother transmits the disease to 50% of her sons, in some cases females can be affected by inactivation of the other x chromosome in female patient who usually has xx, in that cases the disease may be mild comparing to severe one in the male patient.

Question 7

what are the symptoms of fabry disease?

Accepted Answer

Fabry disease: This is a rare form of sphingolipidosis (dysfunctional metabolism of sphingolipids) due to deficiency of Alpha galactosidase enzyme a , leading to accumulation of the lipid in different organs. It presents as pain, kidney failure, hypertension, cardiomyopathy, neuropathy, fatigue, skin & eye lesions. Life expectancy is 40-60 years.

Question 8

what sort of disorder is fabry disease?

Accepted Answer

Fabry disease: Symptoms usually begin during childhood or adolescence and include burning sensations in the hands that gets worse with exercise and hot weather and small, non-cancerous, raised reddish-purple blemishes on the skin.  Lipid storage may lead to impaired arterial circulation and increased risk of heart attack or stroke. More at: http://www.Ninds.Nih.Gov/disorders/fabrys/fabrys.Htm.

Question 9

how many people have anderson-fabry disease?

Accepted Answer

Fabry: Incidence is 1 in 40, 000 to 1 in 120, 000 of live births for males.

Question 10

what is the inheritance pattern of fabry disease?

Accepted Answer

X linked recessive: Fabry disease is an x-linked recessive lysosomal storage disease.

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