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Fabry disease is an X-linked lipid storage disease caused by a deficiency of alpha-galactosidase, with onset in childhood or adolescence. Features of the disorder can include peripheral neuropathies, decreased sweating, angiokeratomas, renal disease, characteristic eye changes, cerebrovascular involvement and GI disturbances to name a few. Many carrier females can be symptomatic. In males, Fabry disease can be diagnosed by measuring the activity of alpha-galactosidase in leukocytes or cultured fibroblasts. Enzyme assay is not a reliable method of diagnosing females and further testing using DNA may be necessary.
Seattle Children’s provides healthcare for the special needs of children regardless
of race, sex, creed, ethnicity or disability. Financial assistance for medically
necessary services is based on family income and hospital resources and is provided
to children under age 21 whose primary residence is in Washington, Alaska, Montana
Seattle Children’s Hospital, Research