What is the scientific name of "Anderson-Fabry" disease?

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otherwise known as "Fabry disease"
I've found a ton of names that it is called as well, but I never know which one is the exact scientific one.
Thanks!!
  (+ info)

Fabry's Disease: How much and how often Lipidase do you take?

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Fabry's Disease: How much and how often Lipidase do you take?
I'm doing some research on this... does anybody know?
You should be asking your doctor this type of question.
You really shouldn't be seeking medical advice from the internet, only support.  (+ info)

Does any one know about Fabry disease forum that has nothing to do with medical companies?

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Try the Fabry Support and Information Group. FSIG.
There is also a yahoo Fabry group with a few members.

Alan.  (+ info)

How many people have Anderson-Fabry disease and if so do you receive treatment and has it helped?

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http://www.code-9.com/
Fun, friendly, family forum with cool arcade
Anderson-Fabry disease (AFD) is a rare, X-linked lysosomal storage disorder that leads to accumulation of globotriasylceramide throughout diverse cells, tissues and organs of the body. The disease usually presents in childhood, is progressive, and results in increasing disability and premature death. Female carriers tend to be less severely affected. AFD is difficult to diagnose because of its heterogeneous signs and symptoms. Awareness is low among health professionals, and diagnosis is typically delayed for several years after first presentation. Treatment was formerly entirely symptomatic, but enzyme replacement therapy has recently been licensed and management is evolving from genetic counselling and palliative care to early diagnosis and active intervention.  (+ info)

someone please help me in biology it's about fabry disease!?

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i want to know tht which chromosome affected in fabry disease? sorry i can not explain ^^ i am not sure but is it x linked?
Fabry disease is caused by any one of more than 370 different mutations (missense, nonsense, splice, deletion, and insertion errors) in the GLA gene. This gene provides instructions for making an enzyme called alpha-galactosidase A. Mutations in the GLA gene alter the structure and function of the enzyme, preventing it from breaking down this substance effectively. As a result, globotriaosylceramide builds up in cells throughout the body, particularly cells lining blood vessels in the skin and cells in the kidneys, heart, and nervous system. The progressive accumulation of this substance damages cells and leads to the signs and symptoms.

GLA mutations that result in a complete absence of alpha-galactosidase A activity lead to the classic, severe form of Fabry disease. Mutations that decrease but do not eliminate the enzyme's activity usually cause the milder, late-onset forms of Fabry disease that affect only the heart or kidneys.

It is X-linked and unlike other X-linked disorders, Fabry disease causes significant medical problems in many females who have one altered copy of the GLA gene. Some females who carry a mutation in one copy of the GLA gene never have any of the signs and symptoms.  (+ info)

Does anyone here have Fabry Disease?

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I was diagnosed a year or so ago, but am fine at the moment.
this is interesting check it out


http://www.fabrydisease.com/Dear%20Pedia%20Patient.html  (+ info)

What is Fabry disease?

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What are the symptons?
What are the missing enzymes?
What are the functions of the missing enzymes?
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.  (+ info)

i have fabry disease and I wondered if any body else on here has it?

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i do but im your mum so dont think it counts lol  (+ info)

what is fabry disease and do you now a place were i can contact some family with it?

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project
Click on the links I've given you to learn about it. As far as you contacting a family with a member affected by Fabry, I'm not sure that's possible but you never know. Try searching for a local chapter of a national foundation: http://www.thenfdf.org

http://www.fabrydisease.com
http://www.ninds.nih.gov/health_and_medical/disorders/fabrys_doc.htm
http://www.fabrycommunity.com/patient/about/fc_p_pt_fabry-disease.asp

I think it sad that research is done this way, by asking others to provide the information you should be finding on your own.  (+ info)

what is andersons-fabry's disease?

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In plain terms is where fats in your cells attach themselves to your internal organs or vessels which causes problems once the accumulated levels are too high. Can cause blotches, lesions and even organ failure.  (+ info)

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