Dublin, July 09, 2025 (GLOBE NEWSWIRE) -- The "Phenylketonuria Treatment Market Size Analysis Report - Market Share, Forecast Trends and Outlook (2025-2034)" report has been added to ResearchAndMarkets.com's offering.
The phenylketonuria treatment market was valued at USD 905.71 Million in 2024 driven by the rising incidence of phenylketonuria and advancements in treatment options across the 8 major markets. It is expected to grow at a CAGR of 8.10% during the forecast period 2025-2034 and attain a market value of USD 1.97 billion by 2034. 
Phenylketonuria occurs due to a lack of the enzyme phenylalanine hydroxylase (PAH), resulting in an accumulation of phenylalanine in the bloodstream and the development of serious neurological issues if not addressed. National PKU Alliance reports that 1 in 25,000 individuals in the United States are living with phenylketonuria. This implies that around 13,500 people with phenylketonuria are currently residing in the United States as of 2024. The increasing number of confirmed cases is fueling the need for continuous management options such as specific diets and treatments, which is expected to boost the market growth in the coming years.
Advancements in Treatment Options Likely to Augment Phenylketonuria Treatment Market Demand
The market for specialized medical foods and therapies for phenylketonuria patients is expanding, with new pharmaceutical choices such as sapropterin dihydrochloride and pegvaliase providing options beyond conventional dietary limitations. In Oct 2024, PTC Therapeutics announced the FDA acceptance for filing of a New Drug Application (NDA) for Sepiapterin to treat pediatric and adult phenylketonuria patients. Enzyme replacement therapies and new gene therapy methods are broadening treatment options, appealing to patients seeking better ways to manage their condition. Advancements in research are driving innovation in the treatment market for phenylketonuria, leading to an increase in demand for non-dietary treatments.
Phenylketonuria Treatment Market Trends
The market is witnessing several trends and developments to improve the current scenario. Some of the notable trends are as follows:
Gene Therapy Advancements are Expected to Impact Market Landscape
Gene therapy is offering hope for the treatment of phenylketonuria (PKU) by fixing the genetic mutation in the PAH gene to bring back the enzyme phenylalanine hydroxylase function. Research has indicated progress in transferring functional PAH gene copies to the liver, which could offer a lasting or permanent solution and remove the necessity for lifelong care. This marks substantial progress in phenylketonuria therapy, providing a single treatment option that has the potential to enhance patient results significantly.
Expansion of Newborn Screening Programs Poised to Boost Phenylketonuria Treatment Market Size
The expansion of newborn screening programs is facilitating the early detection of phenylketonuria cases, leading to an increased demand for treatments. Timely identification via these initiatives helps avoid serious issues, underscoring the significance of thorough infant screening guidelines in enhancing prospects for individuals with PKU and stimulating market expansion.
Increasing Collaborations and Partnerships Set to Elevate the Phenylketonuria Treatment Market Value
The rise in collaborations and partnerships in the PKU treatment sector is spurring innovation and broadening the availability of specialized medical foods and medications. Pharmaceutical companies, research institutions, and healthcare providers are collaborating to speed up research on new treatments, such as gene therapy and enzyme replacement. These collaborations are also aiding companies in understanding patient requirements and influencing the development of future therapies.
Rising Investments in Research and Development to Support Market Growth
Increased funding in R&D is driving progress in pharmacological therapies for phenylketonuria, specifically focusing on gene-editing tools and enhanced medical nutrition. The market for treating phenylketonuria is experiencing growth opportunities due to government funding and grants supporting rare disease research.
Phenylketonuria Treatment Market Share
Market Segmentation Based on the Drugs to Witness Growth
The market is segmented into Kuvan, CNSA-001, SYNB1618, Palynziq, and other drugs. Kuvan is frequently prescribed for patients with mild to moderate phenylketonuria as it boosts the activity of the PAH enzyme, providing a non-invasive treatment option for the condition. It is the first oral medication for phenylketonuria that was approved by the FDA and proven to lower phenylalanine levels in patients with certain enzyme functions. Kuvan is frequently combined with dietary control, making it a crucial part of treatment for numerous phenylketonuria patients because of its established efficacy and extensive presence in the market.
Distribution Channel Segment Represents Substantial Market Share
Hospitals and clinics, retail pharmacies, and others together make up the distribution channel segment of the market. Retail pharmacies provide convenient access to specialized dietary items, medications such as Kuvan and Palynziq, low-protein foods, and amino acid supplements. Patients prefer using retail pharmacies to refill medications and supplies to avoid making numerous trips to the hospital.
Phenylketonuria Treatment Market Analysis by Region
The United States is expected to dominate the market due to its advanced healthcare system, widespread newborn screening, and strong research and development. Mandatory newborn screening across all states enables early identification and prompt intervention, while market growth is fueled by the availability of innovative therapies. Further, extensive support for phenylketonuria patients is also offered by the United States, which is anticipated to elevate the market value in the forecast period.
EU-4 and the United Kingdom are also poised to have a significant market share supported by robust healthcare systems and government screening initiatives to promote early intervention for genetic conditions.
The market in the Japan and India region is rapidly expanding. Japan's extensive screening program and state-of-the-art medical facilities are promoting the expansion of treatment options. On the other side, India's healthcare system is still in the process of development, with the government making substantial efforts for advancements in phenylketonuria diagnosis and treatment.
Key Questions Answered in the Phenylketonuria Treatment Market Report
- What was the phenylketonuria treatment market value in 2024?
- What is the phenylketonuria treatment market forecast outlook for 2025-2034?
- What are the regional markets covered in the report?
- What is the market segmentation based on drugs?
- What is the market segmentation based on end users?
- What is the market breakup based on the route of administration?
- What are the major factors aiding the phenylketonuria treatment market demand?
- How has the market performed so far and how is it anticipated to perform in the coming years?
- What are the major drivers, opportunities, and restraints in the market?
- What are the major trends influencing the market?
- Which regional market is expected to dominate the market share in the forecast period?
- Which country is likely to experience elevated growth during the forecast period?
- Who are the key players involved in the phenylketonuria treatment market?
- What are the current unmet needs and challenges in the market?
- How are partnerships, collaborations, mergers, and acquisitions among the key market players shaping the market dynamics?
Supplier Landscape
- BioMarin Pharmaceutical Inc.
- PTC Therapeutics, Inc.
- Synology Inc.
- SOM Innovation Biotech S.A.
- ERYTECH Pharma S.A.
- Codexis, Inc.
- Homology Medicines, Inc.
- Retrophin, Inc.
- Ultragenyx Pharmaceutical Inc.
- Abbott Laboratories
Key Attributes:
| Report Attribute | Details |
| No. of Pages | 400 |
| Forecast Period | 2025 - 2034 |
| Estimated Market Value (USD) in 2025 | $0.91 Billion |
| Forecasted Market Value (USD) by 2034 | $1.97 Billion |
| Compound Annual Growth Rate | 8.1% |
| Regions Covered | Global |
Key Topics Covered:
1 Preface
1.1 Objectives of the Study
1.2 Key Assumptions
1.3 Report Coverage - Key Segmentation and Scope
1.4 Research Methodology
2 Executive Summary
3 Phenylketonuria Treatment Market Overview: 8 Major Markets
3.1 Phenylketonuria Treatment Market Historical Value (2018-2024)
3.2 Phenylketonuria Treatment Market Forecast Value (2025-2034)
4 Vendor Positioning Analysis
4.1 Key Vendors
4.2 Prospective Leaders
4.3 Niche Leaders
4.4 Disruptors
5 Phenylketonuria Treatment: Disease Overview
5.1 Guidelines and Stages
5.2 Pathophysiology
5.3 Screening and Diagnosis
5.4 Therapy Pathway
6 Patient Profile
6.1 Patient Profile Overview
6.2 Patient Psychology and Emotional Impact Factors
6.3 Risk Assessment and Therapy Success Rate
7 Phenylketonuria Treatment Market Epidemiology Scenario and Forecast - 8 Major Markets
7.1 8MM Epidemiology Scenario Overview (2018-2034)
7.1.1 Prevalence, by Country
7.1.1.1 United States
7.1.1.2 United Kingdom
7.1.1.3 EU4
7.1.1.4 India
7.1.1.5 Japan
7.1.2 Diagnosed Cases, by Country
7.1.2.1 United States
7.1.2.2 United Kingdom
7.1.2.3 EU4
7.1.2.4 India
7.1.2.5 Japan
7.1.3 Treatment Seeking Rate, by Country
7.1.3.1 United States
7.1.3.2 United Kingdom
7.1.3.3 EU4
7.1.3.4 India
7.1.3.5 Japan
8 Phenylketonuria Treatment Market Landscape: 8 Major Markets*
8.1 Phenylketonuria Treatment Market: Developers Landscape
8.1.1 Analysis by Year of Establishment
8.1.2 Analysis by Company Size
8.1.3 Analysis by Region
8.2 Phenylketonuria Treatment Market: Product Landscape
8.2.1 Analysis by Drugs
8.2.2 Analysis by Route of Administration
9 Phenylketonuria Treatment Market Challenges and Unmet Needs
9.1 Therapy Pathway Challenges
9.2 Compliance and Drop-Out Analysis
9.3 Awareness and Prevention Gaps
10 Cost of Treatment
11 Phenylketonuria Treatment Market Dynamics
11.1 Market Drivers and Constraints
11.2 SWOT Analysis
11.3 PESTEL Analysis
11.4 Porter's Five Forces Model
11.5 Key Demand Indicators
11.6 Key Price Indicators
11.7 Industry Events, Initiatives, and Trends
11.8 Value Chain Analysis
12 Phenylketonuria Treatment Market Segmentation: 8 Major Markets
12.1 Phenylketonuria Treatment Market (2018-2034) by Drugs
12.1.1 Market Overview
12.1.2 Kuvan
12.1.3 CNSA-001
12.1.4 SYNB1618
12.1.5 Palynziq
12.1.6 Others
12.2 Phenylketonuria Treatment Market (2018-2034) by Route of Administration
12.2.1 Market Overview
12.2.2 Oral
12.2.3 Parenteral
12.3 Phenylketonuria Treatment Market (2018-2034) by End User
12.3.1 Market Overview
12.3.2 Hospitals and Clinics
12.3.3 Retail Pharmacies
12.3.4 Others
12.4 Phenylketonuria Treatment Market (2018-2034) by Region
12.4.1 Market Overview
12.4.2 United States
12.4.3 EU-4 and the United Kingdom
12.4.3.1 Germany
12.4.3.2 France
12.4.3.3 Italy
12.4.3.4 Spain
12.4.3.5 United Kingdom
12.4.4 Japan
12.4.5 India
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