Fabry disease is an unusual, life-threatening situation with debilitating condition. Fabry disease is an uncommon X-linked inherited disorder. It is caused by the lack of the enzyme alpha galactosidase-A (a-GAL A). It is initiated by the absence of enzyme required to metabolize the lipids, fat-like substances like waxes, oils, and fatty acids. This disease is also known as alpha-galactosidase-A deficiency. Often there is a complete deficiency of a-Gal results in a severe form called the classic Fabry disease. This classic form mostly affects male. Symptoms of this disorder usually appear during childhood or adolescence in both male and female which includes pain that can be either full body or localized known as pricking sensation or numbness (acroparesthesia), gastro hyperactivity, burning sensation in hands, renal inefficiency, cardiac problem and cloudiness of cornea. The pain that is caused by the disease can be treated with anticonvulsants like phenytoin and carbamazepine. Gastric hyperactivity is treated by metoclopramide. Some patient may require dialysis or kidney replacement. However, restricting diet does not help to reduce lipid buildup in cells. The incidence of Fabry disease affects approximately 1 in 40,000 to 60,000 males. Occurrence of this disorder is less frequent in females.

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Fabry disease market can be segmented on the basis of its treatment and geography. The type of treatment can be classified as Enzyme replacement therapy (ERT), Alternative therapies and Emergency treatment strategy. ERT has been available for the treatment of Fabry disease since 2001. U.S Food and Drug Administration has approved the ERT for the treatment of Fabry disease. ERT comforts the pain, decreases the lipid storage and preserves organ function in patients with this disorder. Alternative therapy involves palliative and supportive approach for the treatment of Fabry disease. Emergency treatment strategy involves administration of small molecule drugs which are very effective and have a quick response.

The Fabry disease market presents an enormous opportunity in its treatment and cure. The driving factors those have been aiding the growth of The Global Fabry Disease Market. Firstly, there are provision for orphan drugs, diseases with restricted patient population, such as Fabry disease have limited approved drugs. Special benefits are given to this drugs like few years of market exclusivity, tax benefits for clinical testing and exclusion from prescription drug fees in order to recover the research and development expenses of the drug.

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Secondly, use of tools like ICD, it is a standard tool for diagnosis purposes. These codes are used for reimbursements by the private organizations or government insurers. The code for Fabry disease is E75.21 ICD-10-CM code. ICD-10 codes have been designed to provide superior specificity and better clinical details. ICD-10-CM codes are also expected to provide complete healthcare data, thus helping in the development of advanced clinical pathways and disease protocols. However, currently there is a lack of disease-modifying therapy in the Fabry disease market but there are lot of potential for the improvement in near future.

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Some of the key players in this market are Genzyme Corporation, Shire plc. Amicus Therapeutics. Inc., Synageva BioPharma Corp., JCR Pharmaceutical, ISU ABXIS Co. Ltd., Protalix BioTherapeutics, and Neuraltus Pharmaceuticals, Inc., Biosidus.

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