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A 49-year-old member asked:

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

1 doctor answer2 doctors weighed in
Dr. James Goodrich
Neurosurgery 39 years experience
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

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A 23-year-old member asked:

What is the inheritance pattern of fabry disease?

2 doctor answers6 doctors weighed in
Dr. Ankush Bansal
Internal Medicine 17 years experience
X linked recessive: Fabry disease is an x-linked recessive lysosomal storage disease.
A 31-year-old member asked:

What are the treatments for fabry disease?

2 doctor answers3 doctors weighed in
Dr. Ed Friedlander
Pathology 44 years experience
Plus-minus: Fabry's, a genetic disease, is often brutal when it produces pain (especially burning palms) and interferes with the function of several organ systems. Agalsidase (replagal, fabryzyme), the replacement enzyme, is now available though hugely expensive; it reportedly helps with pain though analgesics / pain management also help. Good luck.
A 35-year-old member asked:

What sort of disorder is fabry disease?

1 doctor answer4 doctors weighed in
Dr. Colin Kerr
Family Medicine 44 years experience
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.
Dr. Jennifer Haley
Dermatology 23 years experience
Very rare, only have seen it once. Reddish spots usually in bathing trunk area.
Feb 11, 2012
CA
A 25-year-old member asked:

What are the advantages and disadvantages of different treatments for fabry disease?

2 doctor answers6 doctors weighed in
Dr. Joseph Eastern
Dermatology 44 years experience
Depends...: ...On the manifestations. Pain? Kidney involvement? Heart symptoms? Rashes? Eye problems? What is going on? Treatment depends on what organs are affected.
CA
A 41-year-old member asked:

Are there safe alternative therapies for fabry disease?

1 doctor answer2 doctors weighed in
Dr. Beth Friedland
Ophthalmology 42 years experience
Enzyme Replacement: Enzyme replacement therapy can reduce lipid storage, ease pain, and improve organ function.

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Last updated Jun 22, 2014

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