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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