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Doctor insights on: Angiokeratoma Corporis Diffusum Universale

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What is fabry disease?

What is fabry disease?

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. ...Read more

Dr. Raymond Kwong
77 doctors shared insights

Fabry Disease (Definition)

Fabry disease is an inherited condition caused by abnormal deposits of a specific fatty substance in blood vessels and various organs of the body. Symptoms are broad and vary depending on where ...Read more


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What is fabry disease like?

What is fabry disease like?

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. ...Read more

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Fabry disease, what is this?

Fabry disease, what is this?

Fabry's disease: Fabry's disease results from abnormal deposits of a particular fatty substance (called globotriaosylcera-mide) in blood vessel walls throughout the body. The primary defect which allows this to occur is the inherited deficiency of the enzyme, Alpha galactosidase A, this is normally responsible for the breakdown of globotriaosylceramide. For more info see: http://www.fabry.org/fsig.nsf/pages/fabry ...Read more

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Does fabry disease affect the kidneys?

Does fabry disease affect the kidneys?

Yes: Fabry disease is called cardiocerebrorenal syndrome because it affects the vessels of the heart, brain, and kidneys most often. ...Read more

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Is fabry disease dominant or recessive? Any answer appreciated.

Is fabry disease dominant or recessive? Any answer appreciated.

X-linked: It is an X-linked inheritance. That means it is found as a mutation on the X chromosome . Males are XY and so one gene mutation in that X chromosome that affects the alpa-galactosidase enzyme will cause the disease. Females are XX and so if one x chromosome has the mutation ,they will often experience a lesser form of Fabry Disease or no symptoms at all. ...Read more

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I would like to know which chromosome is affected in fabry disease?

I would like to know  which chromosome is affected in fabry disease?

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 ...Read more

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Is there a cure fabry disease?

Is there a cure fabry disease?

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

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What is "anderson-fabry" disease?

What is "anderson-fabry" disease?

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

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Does fabry disease affect only males?

Does fabry disease affect only males?

Not always: The mutation is carried on the x-chromosone. Men have one y and one x chromosome, therefore they tend to express the gene product. Women have two x chromosomes, so it depends on which x chromosome becomes more active. In some unlucky women, they can express the full blown symptoms of fabry's disease. There are also some special cases of xy women out there, they would be likely to have symptoms. ...Read more

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