Phenylketonuria (PKU) Global Market Report 2025

The phenylketonuria (PKU) market size has grown strongly in recent years. It will grow from $0.85 billion in 2024 to $0.93 billion in 2025 at a compound annual growth rate (CAGR) of 9.1%. The growth in the historic period can be attributed to the expansion of newborn screening programs, increasing awareness of metabolic disorders, advancements in PKU dietary management, the growing availability of medical foods, and regulatory approvals for PKU treatments.

The phenylketonuria (PKU) market size is expected to see strong growth in the next few years. It will grow to $1.3 billion in 2029 at a compound annual growth rate (CAGR) of 8.8%. The growth in the forecast period can be attributed to the increasing adoption of gene therapy, the expansion of enzyme replacement therapies, rising investments in rare disease research, growing demand for personalized medicine, and government support for PKU treatment coverage. Major trends include the development of RNA-based therapies, the rise of digital health solutions for PKU management, increased collaborations between biotech firms and research institutions, a focus on non-dietary treatment alternatives, and the expansion of telehealth services for PKU patients.

The rising incidence of genetic disorders is expected to drive the growth of the phenylketonuria (PKU) market in the coming years. Genetic disorders are medical conditions caused by abnormalities in an individual’s DNA, including mutations, deletions, or duplications of genes or chromosomes. The increasing prevalence of these disorders can be attributed to factors such as rising maternal age, environmental influences, advancements in diagnostic technologies, and greater awareness, leading to improved detection rates. Phenylketonuria plays a key role in understanding genetic disorders by illustrating how inherited enzyme deficiencies can result in severe metabolic complications. For example, in March 2024, Gene People, a UK-based registered charity, reported that genetic conditions affect approximately 1 in 25 children, impacting over 2.4 million children and adults in the UK. Additionally, around 30,000 newborns and children in the UK are diagnosed with a genetic condition each year. As a result, the increasing incidence of genetic disorders is fueling the expansion of the phenylketonuria (PKU) market.

Leading companies in the phenylketonuria (PKU) market are focusing on technological advancements to enhance the efficacy and safety of PKU treatments. One such innovation is the use of physiomimic technology, which replicates human physiological conditions to improve drug absorption and metabolism. Physiomimic technology comprises a set of hardware, consumables, and assay protocols designed to simulate complex human biology and precisely predict human drug responses. For instance, in October 2022, Relief Therapeutics Holding SA, a Switzerland-based biopharmaceutical company, announced the launch of PKU Golike. This next-generation medical food product, developed using patented pharmaceutical-grade physiomimic technology, is designed for the dietary management of phenylketonuria (PKU). PKU Golike is a prolonged-release amino acid product available in granules, packets, and medical food bars. Its unique coating enables the physiological absorption of amino acids similar to natural proteins while masking their unpleasant taste, odor, and aftertaste.

In August 2024, Otsuka Holdings Co. Ltd., a Japan-based pharmaceutical company, acquired Jnana Therapeutics Inc. for approximately $1.1 billion. Through this acquisition, Otsuka Pharmaceutical gains access to JNT-517, an oral drug for treating the rare genetic disorder phenylketonuria (PKU), while also strengthening its pipeline of innovative therapies for autoimmune diseases. Jnana Therapeutics Inc. is a US-based biotechnology company specializing in the treatment of phenylketonuria (PKU).

Major players in the phenylketonuria (pku) market are Abbott Laboratories, Merck KGaA, Agios Pharmaceuticals Inc., BioMarin Pharmaceutical Inc., PTC Therapeutics Inc., Ultragenyx Pharmaceutical Inc., Nutricia International Private Limited, Codexis Inc., Eton Pharmaceuticals Inc., Vitaflo International Ltd., American Gene Technologies International Inc., Cambrooke Therapeutics Inc., Generation Bio Co., Mead Johnson & Company, LLC, Relief Therapeutics Holding SA, SOM Innovation Biotech S.A., Synlogic Inc., Galen Ltd, Aptatek Biosciences Inc., Homology Medicines Inc.

North America was the largest region in the phenylketonuria (PKU) market in 2024. Europe is expected to be the fastest-growing region in the forecast period. The regions covered in phenylketonuria (PKU) report are Asia-Pacific, Western Europe, Eastern Europe, North America, South America, Middle East and Africa.

The countries covered in the phenylketonuria (PKU) market report are Australia, Brazil, China, France, Germany, India, Indonesia, Japan, Russia, South Korea, UK, USA, Canada, Italy, Spain.

Phenylketonuria (PKU) is a rare inherited metabolic disorder in which the body is unable to break down the amino acid phenylalanine (Phe), which is present in many protein-containing foods. This condition results from a deficiency or malfunction of the phenylalanine hydroxylase (PAH) enzyme, which is responsible for converting phenylalanine into tyrosine.

The primary types of phenylketonuria (PKU) include hyperphenylalaninemia (HPA), mild PKU, moderate and variant PKU, and classic PKU. Hyperphenylalaninemia (HPA) is a genetic metabolic disorder caused by a deficiency of phenylalanine hydroxylase, leading to elevated levels of phenylalanine in the blood. Treatment options for PKU consist of enzyme replacement therapy, gene therapy, medication, and dietary therapy. Diagnosis methods include genetic testing, biochemical testing, and newborn screening. The key end users of PKU treatments and diagnostics include specialty clinics, research institutes, home healthcare providers, and hospitals.

The phenylketonuria (PKU) market research report is one of a series of new reports that provides phenylketonuria (PKU) market statistics, including the phenylketonuria (PKU) industry global market size, regional shares, competitors with the phenylketonuria (PKU) market share, detailed phenylketonuria (PKU) market segments, market trends, and opportunities, and any further data you may need to thrive in the phenylketonuria (PKU) industry. This phenylketonuria (PKU) market research report delivers a complete perspective of everything you need, with an in-depth analysis of the current and future scenarios of the industry.

The phenylketonuria (PKU) market consists of revenues earned by entities by provide services such as enzyme therapy, screening tests, PKU tests, and PKU formula. The market value includes the value of related goods sold by the service provider or included within the service offering. The phenylketonuria (PKU) market also includes sales of sapropterin (Kuvan), pegvaliase-pqpz (Palynziq) and dietary supplements. Values in this market are ‘factory gate’ values, that is the value of goods sold by the manufacturers or creators of the goods, whether to other entities (including downstream manufacturers, wholesalers, distributors, and retailers) or directly to end customers. The value of goods in this market includes related services sold by the creators of the goods.

The market value is defined as the revenues that enterprises gain from the sale of goods and/or services within the specified market and geography through sales, grants, or donations in terms of the currency (in USD unless otherwise specified).

The revenues for a specified geography are consumption values that are revenues generated by organizations in the specified geography within the market, irrespective of where they are produced. It does not include revenues from resales along the supply chain, either further along the supply chain or as part of other products.

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