A 28-year-old female asked:
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What lab work should be done to test for Fabry's disease?

1 doctor answer
Dr. Adam Lewis
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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Related questions:

A 46-year-old member asked:
Dr. Beth Friedland
41 years experience in Ophthalmology
Blood test: If the disease is suspected then the genetic tests can be done to look for the x linked galactosidase a enzyme deficiency.
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A 49-year-old member asked:
Dr. Mohammad Homsi
32 years experience in Neurology
Fabry disease: Fabry disease is a hereditary disease and transmitted as x-linked recessive, meaning that the carrier mother transmits the disease to 50% of her sons, ... Read More
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A 40-year-old member asked:
Dr. Alan Ali
Dr. Alan Ali answered
31 years experience in Psychiatry
Fabry: Incidence is 1 in 40, 000 to 1 in 120, 000 of live births for males.
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A 50-year-old member asked:
Dr. Andrew Shatz
25 years experience in Ophthalmology
Multiple symptoms: Fabry disease is an inherited condition that occurs more frequently in males and leads to buidup of a certain type of fat in the body's cells. Symptom ... Read More

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