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A member asked:
What are the symptoms of fabry disease?
3 doctors weighed in across 2 answers
Fabry disease: This is a rare form of sphingolipidosis (dysfunctional metabolism of sphingolipids) due to deficiency of Alpha galactosidase enzyme a , leading to accumulation of the lipid in different organs. It presents as pain, kidney failure, hypertension, cardiomyopathy, neuropathy, fatigue, skin & eye lesions. Life expectancy is 40-60 years.
Answered 6/24/2014
5.7k views
Fabry disease: This is a rare form of sphingolipidosis (dysfunctional metabolism of sphingolipids) due to deficiency of Alpha galactosidase enzyme a , leading to accumulation of the lipid in different organs. It presents as pain, kidney failure, hypertension, cardiomyopathy, neuropathy, fatigue, skin & eye lesions. Life expectancy is 40-60 years.
Answered 6/24/2014
5.7k views
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