New treatment could alleviate symptoms genetic disorders causing protein deficiencies

Fabry Disease Ppt.Cyrus & Jukie

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For seventeen years Raul Hernandez struggled to live a normal life while dealing with a rare genetic disorder called Anderson Febry's disease. Often misdiagnosed as a variety of other afflictions, Raul's doctor believed the severe pain he experienced in his hands and feet were merely psychological. Now Raul is able to take part in clinical trials for a new treatment called Enzyme Replacement Therapy.
Febry's disease is caused by an inherited genetic mutation which disables the production an enzyme called Alpha-Galactosidase, an enzyme which breaks down a specific glycolipid called globotriaosylceramide or GL-3. Deficiency of this enzyme causes symptoms such as neuropathic pain throughout the hand and feet and the lipids to accumulate within the body, damaging organs and cases of angiokeratoma on the skin which can ultimately prove fatal due to heart attacks or strokes caused by clotting within the blood vessels.
Enzyme Replacement Therapy demonstrates a newly refined method to alleviate the symptoms of Febry’s disease. By injecting the necessary protein directly into the bloodstream the patient is able to function normally for up to two weeks before they require another injection. So far the treatment has proven to effectively reduce patients pain.