Fabry Disease

Question: fabry disease?

Answer: http://healthlink.mcw.edu/article/921727118.html

Question: Fabry's Disease: How much and how often Lipidase do you take? Fabry's Disease: How much and how often Lipidase do you take? I'm doing some research on this... does anybody know?

Answer: You should be asking your doctor this type of question. You really shouldn't be seeking medical advice from the internet, only support.

Question: How many people have Anderson-Fabry disease and if so do you receive treatment and has it helped? http://www.code-9.com/ Fun, friendly, family forum with cool arcade

Answer: 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.

Question: Does anyone here have Fabry Disease? I was diagnosed a year or so ago, but am fine at the moment.

Answer: this is interesting check it out http://www.fabrydisease.com/Dear%20Pedia…

Question: What is Fabry disease? What are the symptons? What are the missing enzymes? What are the functions of the missing enzymes?

Answer: 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.

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

Answer: i do but im your mum so dont think it counts lol

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

Answer: 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_medi… http://www.fabrycommunity.com/patient/ab… I think it sad that research is done this way, by asking others to provide the information you should be finding on your own.

Question: what is andersons-fabry's disease?

Answer: 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.

Question: Fabry's Disease? Have you heard of it? Do you know anyone who has it?

Answer: Fabry's disease is a fat storage disorder caused by a deficiency of an enzyme involved in the biodegradation of lipids. Some of the female carriers exhibit signs of the condition, especially cloudiness of the cornea. In addition to the eye manifestations, males characteristically have burning sensations in their hands and feet that is worse with exercise and hot weather. Most of the males have small, raised, reddish-purple blemishes on their skin. As they grow older, they may have impaired arterial circulation leading to early heart attacks and strokes. The kidneys become progressively involved, and many patients require kidney transplantation or dialysis. A number of patients have gastrointestinal difficulties characterized by frequent bowel movements shortly after eating. This disorder is due to a deficiency of a lipid breakdown enzyme known as ceramidetrihexosidase, also called alpha-galactosidase A. Its function is to cleave to a molecule of galactose from a lipid that arises primarily from old red blood cells. The pain in the hands and feet usually responds to medications such as Tegretol (carbamazepine) and dilantin. Gastrointestinal hyperactivity may be treated with metoclopramide or Lipisorb® (a nutritional supplement). Early experiments have indicated that enzyme replacement may be useful. Patients with Fabry's disease usually survive into adulthood, but they are at risk for strokes, heart attacks, and kidney damage.

Question: I am having a bug trouble doing this essay i would someone to help me with he essay? choose from ushers syndrome, frierechs ataxia, niemann pick disease, fabry disease and charcot-Marie disease ; and a corresponding societal issue. research the topic and write a 2 page report . in your report include the following 1. an explanation of the genetic conditi0on 2. the advantages for individuals with the condition knowing is origin supported with arguments 3. the disadvantages for indiviuals with the condition knowing its origion supported by arguments 4. what condiitons including ethical implications you have made as a result of you reseach. 5. abibliography of the resources.

Answer: mm..just follow the outline, it states pretty clear what you need to do. Do a lot of research first, when you know the things they ask..just write it out. It is a science essay, so you don't need too much creative writing skills..just pour all the information..teacher can't take off points if you state what she asked you. All these syndromes are mutations i believe..so it must have origins. Their genes mutates, so you can say what is the difference between the genes of those ppl that have these syndroms and the normal ppl. Usually these mutations have their advantages and disadvantages. One example of these disease is sickle blood cell anemia. It originate in Africa, and it is suppose to be immuned to misquetos( i think). However, it spreaded to other places, and people don't need this immune function to live..and it destroy the cells, and they become sickle. Ethical implications could be that should we get rid of it,(which is kinda hard to do), or keep it. Good luck with your essay...I get headaches from them too..just stay calm and do what the outline tells you to do.