Rare metabolic disorders are caused due genetic conditions which result in metabolism problems. Defective gene present in individuals with metabolic disorder results in deficiency of essential enzymes. There are several types of metabolic disorders with varied symptoms, diagnosis, and treatments. Gene mutation is the leading cause of rare metabolic disorders. The mutated gene is passed from one generation to another generation. This type of genetic transmission is known as autosomal recessive inheritance. The incidence rate of rare metabolic disorder in newborn population is about 1 in 1,000 to 2,500. The rate of inheritance of rare metabolic disorders in ethnic population such as Jews of Central and Eastern Europe is much higher. Rare metabolic disorders can be divided into disorders of carbohydrate metabolism, disorder of protein metabolism, and others.

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According to the European Federation of Pharmaceutical Industries and Associations, rare metabolic disorders such as Pompe’s disease affect approximately 5,000 to 10,000 people globally. Most affected babies die in their ?rst year of life. It is caused due to de?ciency of the enzyme acid maltase and leads severe muscle degeneration of the heart and the lung. Fabry’s disease is estimated to occur in approximately 1 in 40,000 births and affects around 5,000 people. It is caused due to deficiency of enzyme alpha-galactosidase A, and leads to progressive accumulation of lipids in the kidney, heart, and other organs.

Inherited condition of type 1 mucopolysaccharidosis is another rare metabolic disorder affecting approximately 3,000 to 4,000 people globally. It is caused due alpha-L-iduronidase enzyme deficiency. Symptoms for this type of rare metabolic disorder are progressive damage to heart, lungs, liver, and kidneys, and in some cases neurological. The Hurler form is the most serious type which leads to severe neurological disorder, obstructive respiratory disease, and death before the age of ten. Scheie form, which is comparatively less severe, leads to corneal clouding, stiffness in joints, and heart disease.

Diagnosis of rare metabolic disorders is generally carried out through blood screening by measurement of metabolic products which accumulate in the blood stream and urine. The identification process of these metabolites is carried out by using sophisticated chromatographic equipment. The treatment of rare metabolic disorders is generally carried out using enzyme replacement therapy. On February 08, 2017, the FDA approved the first new born screening system for rare metabolic disorders (mucopolysaccharidosis type I, Pompe, Gaucher, and Fabry) “The Seeker System” by Baebies Inc. According to the U.S. Department of Health and Human Services, these disorders are observed in approximately 1 in 5,000 to 1 in 185,000 children.

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Increasing awareness, rise in research activities in the field of proteomics and metabolomics, changing lifestyle, advancements in the health care industry, and technological advancement in biopharmaceuticals is expected to drive the rare metabolic disorder screening market during the forecast period. Rare metabolic disorder screening is gaining popularity among the new generation due to increasing awareness regarding genetic disorders which could prove to be life threatening. High cost of treatment, stringent government regulation, and unfavorable reimbursement act as restraints of the rare metabolic disorder screening market.

Geographically, the global rare metabolic disorder screening market has been segmented into five key regions: North America, Latin America, Europe, Asia Pacific, and Middle East & Africa. North America leads the global rare metabolic disease screening market because of increasing population, rising number of screening procedures, and technological advancements. It was closely followed by Europe and Asia Pacific. Asia Pacific is an emerging market for rare metabolic disorder disease screening primarily because of increasing health care expenditure in the region and growing awareness.

Key players in the global rare metabolic disorder screening market are Baebies, Inc., Shire plc, BioMarin, Actelion Pharmaceuticals Ltd., Sanofi, Pfizer, Inc., GlaxoSmithKline, and Amicus Therapeutics, Inc., among others.

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