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The Fabry Disease Clinic at Children's Hospital is a collaboration between&nbsp;the Department of Neurology and the Department of Genetics and Genomic Medicine. We diagnose and treat children, teens and young adults with this lysosomal storage disease.

Fabry Community

Vanderbilt Children's Neurology

Fabry disease is a genetic disorder that affects several of the body's organ systems. Symptoms vary but usually include<ul>	<li>Pain due to nerve problems</li>	<li>Pain in the stomach and intestines</li>	<li>High blood pressure</li>	<li>Chronic heart disease</li>	<li>Angiokeratomas, which are blood capillaries that cause skin problems</li>	<li>Unusual sweating</li></ul>Fabry is a lysosomal storage disorder that usually affects males, with&nbsp;females&nbsp;as disease carriers or mildly-to-moderately affected. It is caused by mutations in the GALA gene that encodes the enzyme alpha-galactosidase.The state of Tennessee expanded newborn screening in July 2017 to include Fabry as well as Krabbe, Hurler, Gaucher&nbsp;and Pompe diseases. This is important&nbsp;because&nbsp;early diagnosis allows much better disease management. Enzyme replacement therapy was approved by the FDA in 2003 and can halt progression of symptoms.

Fabry disease

Conditions We Treat

Researchers have found many genetic mutations that can lead to PCD, but at this time genetic testing cannot diagnosis every case of PCD. Genetic testing is performed through a blood sample and is sent to a specialized lab.

Genetic testing

Screenings & Tests We Offer

Treatments We Offer

Nephrology and Hypertension

Pediatric Genetics and Genomic Medicine

Pediatric Heart Institute

Pediatric Neurology

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Vanderbilt Neurosciences in Nashville, TN

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Genetics

Medical Genetics

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