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Hereditary orotic aciduria is a condition refers to an excessive excretion of orotic acid in the urine. Orotic acid is an intermediate product produced during the pyrimidine synthesis pathway. Hereditary orotic aciduria is a rare autosomal recessive disorder. Hereditary oratic disorder may be caused by a deficiency in enzyme UMPS.
UMPS is a bifunctional protein that consists of the enzyme activities of orotate phosphoribosyltransferse and orotidine 5-phosphate decarboxylase. Hereditary oratic aciduria is also known as uridine monophosphate synthase deficiency. This rare congenital autosomal recessive disorder of pyrimidine metabolism is caused by defect in uridine monophosphate synthase.
Hereditary oratic aciduria is one of the rare metabolic disorder, which has been reported in approximately 20 patients worldwide according to FDA. The symptoms of the disease include growth retardation, mental retardation, megaloblastic anemia, immunodeficiency and high level of oratic acids in urine.
The inability to convert orotic acid results in body being unable to normally synthesize uridine, a necessary component of RNA which leads to failure to thrive. Hereditary orotic aciduria patients are administered with cytidine monophosphate and uridine monophosphate to reduce urinary orotic acid and anemia. Patient may also administrated with uridine, which converted into UMP and provide a source of pyrimidine for the body.
Hereditary orotic aciduria treatment market shows growth in forecast period due to increasing healthcare awareness and healthcare expenditure. Hereditary oratic aciduria is rare autosomal disorder so manufacture are finding new solution for treatment of disease. Increasing research and development in pharmaceutical and molecular science is also a factor which increase growth of hereditary orotic aciduria treatment market.
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Hereditary orotic aciduria treatment market is growth because of increase in clinical trials to develop drugs for proper treatment of this disorder. Orotic acid from the de novo pyrimidine pathway that cannot be converted to UMP is excreted in urine, accounting for common name of disorder, orotic aciduria. Uridine triacetate is one the effective drug used for hereditary orotic aciduria treatment.
Uridine triacetate majorly orally administered. Uridine triacetate is a pyrimidine analog. These drug works by replacing the uridine that cannot be normally produced in patients with hereditary orotic aciduria. Hereditary orotic aciduria is unique because was through of unique because loss of two enzymes. It is now known that these activities resides in different domains of single polypeptide coded by a single gene.
Hereditary orotic aciduria patients have a macrocytic hypochromic megloblastic anemia and orotic acid crystalluria. Majority of patients have been treated with uridine with good effects in majority. Some of the patients require continued therapy.
In terms of geography, hereditary orotic aciduria treatment market has been divided into five regions including North- America, Asia- Pacific, Middle-East & Africa, Latin America, and Europe. North America dominated the global hereditary orotic aciduria treatment market as followed by Europe.
North America region dominates the hereditary orotic aciduria market due their increasing research and development in pharmaceutical industry. In Asian Pacific, India and China will be the main market for the growth of the hereditary orotic aciduria treatment market.
Example of some of the market participants in global hereditary orotic aciduria treatment market identified across the value chain includes Merck & Co. Inc., Cyman Chemical and Wellstat Therapeutics Corporation are leading companies in the market which have the highest contribution to hereditary orotic aciduria treatment market.
