Phenylketonuria is a rare genetic condition that leads to the production of phenylalanine in the body. Phenylalanine is an amino acid present in all proteins and in certain artificial sweeteners. The human body uses enzyme phenylalanine hydroxylase to convert phenylalanine into tyrosine, which is a nonessential amino acid. The human body requires tyrosine to create neurotransmitters, such as epinephrine, norepinephrine, and dopamine.
Phenylketonuria (PKU) is caused due a defect in the gene which helps to produce phenylalanine hydroxylase. Absence of phenylalanine hydroxylase leads to a buildup of phenylalanine in the body. Timely diagnosis and treatment helps in terminating the symptoms of PKU and avoid brain damage. Phenylketonuria is an inherited genetic condition caused due to a defect in the PAH gene. The PAH gene is responsible for the production of phenylalanine hydroxylase for breakdown of phenylalanine. Increased levels of phenylalanine can occur due to high intake of protein, such as eggs and meat. For an infant to inherit phenylketonuria, both parents must pass on a defective version of the PAH gene.
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Classic PKU is the most severe form of phenylketonuria disorder. A newborn with classic PKU appears normal for the first few months. If the newborn is not treated for phenylketonuria in time, it can develop symptoms such as seizures, tremors, or trembling and shaking, stunted growth, hyperactivity, skin conditions, and etc. The other form of phenylketonuria is known as non-PKU hyperphenylalaninemia, which occurs when an infant has higher levels of phenylalanine in the body. Non-PKU hyperphenylalaninemia disorder can have mild symptoms, but in order to prevent intellectual disabilities they need to follow a special diet to prevent disabilities.
Phenylketonuria condition is uncommon in the U.S., affecting about 1 in 10,000 to 15,000 newborns every year. The severity of phenylketonuria is rare in the U.S., due the early screening and availability of optimized treatment soon after birth. Phenylketonuria can lead to permanent brain damage and intellectual disabilities within the first few months after the birth and in time lead to behavioral problems among older children. A screening test is performed when an infant is one to two days old and still in hospital. The doctor uses a needle to collect few drops of blood sample from the infant’s heel to run the test for phenylketonuria and other genetic disorders. According to the U.S. FDA, recently approved sapropterin can be used for the treatment of phenylketonuria. Sapropterin helps to lower phenylalanine levels in the body. The medication must be used in combination with a special phenylketonuria meal plan.
Based on product type, the phenylketonuria diagnosis and treatment market has been segmented into drugs and nutrition supplements. Nutrition supplements are widely prescribed by doctors along with specialized diet during the treatment of phenylketonuria. In terms of route of administration, the market has been segmented into oral and parenteral.
Increasing incidence rate of phenylketonuria is a major driver of the global phenylketonuria diagnosis and treatment market. The incidences of phenylketonuria are based on demographics and ethnic groups. Phenylketonuria screening tests used for diagnosis include bacterial inhibition assay, immunoassay, and mass spectrometry analysis for amino acid.
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Increasing awareness, growing research in the field of genomics and bioinformatics, changing lifestyle, advancements in the health care industry, and rising per capita income in emerging markets are expected to drive the phenylketonuria diagnosis and treatment market during the forecast period. However, overall high cost of treatment, stringent government regulations, and unfavorable reimbursement are expected to restrain the market.
Geographically, the global phenylketonuria diagnosis and treatment market has been segmented into North America, Europe, Asia Pacific, Latin America, and Middle East & Africa. North America dominates the phenylketonuria diagnosis and treatment market due of increasing population, rising number of screening procedures, presence of leading manufacturers, and technological advancements. North America is closely followed by Europe and Asia Pacific. Asia Pacific is an emerging market for phenylketonuria diagnosis and treatment primarily because of increasing health care expenditure in the region and awareness.
Key players in the global phenylketonuria diagnosis and treatment market are Cambrooke Therapeutics, Daiichi Sankyo Company Limited, American Gene Technologies International, Inc., Danone Nutricia, Dimension Therapeutics, Inc., Synthetic Biologics, Inc., SOM Innovation Biotech SL, Codexis, Inc., BioMarin Pharmaceutical, Inc., and Erytech Pharma SA, among others.
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