A 28-year-old female asked:
What lab work should be done to test for Fabry's disease?
1 doctor answer
Dr. Adam Lewis answered
34 years experience in Neurosurgery
Fabry's disease: Fabry's disease is a rare genetic disorder which has a deficiency of Alpha galactosidase which allows glycolipids to accumulate in blood vessels, tissues, and organs. Because it is inherited in an x-linked fashion, an enzyme assay for Alpha galactosidase in boys and genetic analysis for the GLA gene in girls is performed to establish the diagnosis.
Answered on Jun 24, 2014
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