Fabry disease By Shashank Survi

Fabry disease is an inherited disease which builds up a fat called globotriaosylceramide. Fabry disease is caused by galactosidase alpha gene which becomes mutated. The GLA gene provides instructions for making a enzyme (protein) called alpha-galactosidase A, this enzyme breaks down globotriaosylceramid, which contains three sugars attached to a fatty acid substance. The disease was first documented in 1898 by two independent physicians, William Anderson (England) and Johann Fabry (Germany). They discovered this disease by first discovering that their patient had red–purple maculopapular skin lesions, which they called angiokeratoma corporis diffusum. William Anderson described the dermatological symptoms. Since the patient, who was about 13 years, developed cutaneous eruptions in the hollow of his left knee, William Anderson (England) and Johann Fabry (Germany) suggested that the disease might be a form of naevus or developmental defect. Now the disease is commonly known as Fabry disease.

The incidence rate of Fabry disease in the US is 1 in 50,000 which means around 3,230 males are affected in U.S. in a year and for females, it is around 4,483 females affected every year, the incidence rate of Fabry disease worldwide for both female and male is, of 110,882 people affected with Fabry disease, only 25% show symptoms world wide (outside U.S.) The disease is likely to affect males over females. Some the symptoms of Fabry disease are Pain and burning in your hands and feet, Cloudy vision, hearing loss, and ringing in the ears.

Fabry disease can be diagnosed in a lab test which measures the amount of alpha-GAL enzyme activity in the user's blood. If someone is found to have Fabry disease, they are treated with enzyme replacement therapy, with includes medicine. If there are severe cases when renal failure occurs, then kidney transplant is needed. The prognosis varies with ever patient, but it is most likely for the people who have Fabry disease to show symptoms of Fabry disease at ages 40 to 50. The genetic pattern of inheritance of Fabry disease is X-linked recessive inheritance. One of many current research conducted on the Fabry disease is the direct delivery of the α-GAL gene by modifying adenoviral and adeno-associated viral vectors which almost always genetically modifies the liver, lung, or muscle of the patient and uses these organs as internal sources of α-GAL.






2014 BDSRA Hofmann Enzyme Replacement Therapy (ERT). Slideshare, Batten DiseaseSupport and Research Association, www.slideshare.net/BDSRA/2014- bdsra-hofmann-enzyme-replacement-therapy-ert. Accessed 3 Feb. 2017.

Fabry Disease. Epainassist, Pramod Kerkar, www.slideshare.net/BDSRA/ 2014-bdsra- hofmann-enzyme-replacement-therapy-ert. Accessed 3 Feb. 2017.

Fabry Disease. Epainassist, Pramod Kerkar, www.slideshare.net/BDSRA/ 2014-bdsra-hofmann-enzyme-replacement-therapy-ert. Accessed 3 Feb. 2017.

Created By
Saishashank Survi


Created with images by ColiN00B - "dna dns biology"

Made with Adobe Slate

Make your words and images move.

Get Slate

Report Abuse

If you feel that this video content violates the Adobe Terms of Use, you may report this content by filling out this quick form.

To report a Copyright Violation, please follow Section 17 in the Terms of Use.