X chromosome. Alpha galactosidase a deficiency.
Fabry Disease. Fabry disease is caused by mutations in the GLA gene. This gene provides instructions for making an enzyme called alpha-galactosidase A. This enzyme is active in lysosomes, which are structures that serve as recycling centers within cells. If you search the Web there are many resources available to get more information on this disorder.
X linked recessive. Fabry disease is an x-linked recessive lysosomal storage disease.
Fairy inheritance. The inheritance is x-linked recessive. This means it is transmitted from carrier moms to male offspring who express the disease.
Fabry disease. Disease described by Fabry.
Lipid build up. There is alipid build up in the kidneys and in the blood vessels feeding the kidneys.
Yes. Fabry disease is called cardiocerebrorenal syndrome because it affects the vessels of the heart, brain, and kidneys most often.
Yes. Yes, it is inherited on the x chromosome, which means that it is usually (but not always) worse in males. It causes a variety of symptoms, which can be very severe. Fortunately, it is quite rare.
Depends.... ..On the manifestations. Pain? Kidney involvement? Heart symptoms? Rashes? Eye problems? What is going on? Treatment depends on what organs are affected.
Few available. Treatment for this inherited disease of alpha-galactosidase deficiency is an enzyme infusion available from two sources at a very expensive cost. This is not a cure but will attentuate the symptoms and allow a mostly normal lifestyle.
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.
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.