Phenylketonuria Market Is Projected to Grow Significantly During the Forecast Period | PTC Therapeutics, Homology Medicines, Synlogic, BioMarin Pharmaceuticals

Phenylketonuria Market Is Projected to Grow Significantly During the Forecast Period | PTC Therapeutics, Homology Medicines, Synlogic, BioMarin Pharmaceuticals
Phenylketonuria Market
Phenylketonuria Market is anticipated to grow in the coming years owing to the rise in the cases of Phenylketonuria, growth in the research and development activities by the pharma and biotech giants for the development of novel drugs, and the expected launch of emerging therapies in the market.

Globally, several major pharma and biotech giants such as PTC Therapeutics, BioMarin Pharmaceuticals, Homology Medicines, and Synlogic are investigating their candidates for Phenylketonuria, and the emerging therapies are anticipated to hit the market in the near future.

DelveInsight’s “Phenylketonuria Market Insights, Epidemiology, and Market Forecast 2032” report delivers an in-depth understanding of the disease, historical and forecasted epidemiology, as well as the Phenylketonuria market size, share, trends, and growth opportunities in the seven major markets (7MM) (i.e., the United States, EU4 (Germany, Spain, Italy, France), the United Kingdom and Japan).

The Phenylketonuria market report covers emerging drugs, current treatment practices, market share of individual therapies, and current & forecasted market size from 2019 to 2032. It also evaluates the current treatment practice/algorithm, key drivers & barriers impacting the market growth, and unmet medical needs to curate the best of the opportunities and assess the underlying potential of the market. 

Phenylketonuria Overview

Phenylketonuria (PKU) is a congenital metabolic disorder typically identified through routine newborn screening within the first days of life. It manifests due to the absence or deficiency of an enzyme known as phenylalanine hydroxylase (PAH), crucial for metabolizing the amino acid phenylalanine. Amino acids are fundamental for proper growth and development as they serve as the building blocks of proteins. In individuals with normal PAH function, phenylalanine is converted into another amino acid, tyrosine. However, in the absence or deficiency of PAH, phenylalanine accumulates, posing toxicity risks to the brain.

Without intervention, most individuals affected by PKU would face the prospect of severe intellectual disability. To mitigate this risk, treatment typically involves a meticulously regulated diet that restricts phenylalanine intake, commencing within the initial days or weeks of life.

Phenylketonuria Market Key Facts

  • The Phenylketonuria (Phenylketonuria) market size was USD 630 million in the 7MM in 2021. The market size in the 7MM is expected to rise by 2032.

  • The United States accounted for the largest market size of Phenylketonuria compared to EU5 and Japan in 2021.

  • Among the EU5 countries, Germany had the largest market size, with USD 68.1 million in 2021, while Spain had the smallest market size for Phenylketonuria, with USD 20.5 million in 2021.

  • The expected launch of potential therapies may increase market size in the coming years, assisted by an increase in the diagnosed prevalent population of Phenylketonuria. The market share of Kuvan is expected to decrease in the forecast period after losing its market exclusivity and entry of generics in the market.

  • The total diagnosed prevalent cases of Phenylketonuria in the 7MM was found to be 49,600+ in 2021.

  • Among 7MM, the United States had the highest number of diagnosed cases, with 17,000+ cases in 2021. In EU5, Germany has the highest number of cases, i.e., 8,200+ cases, followed by France with 7,500+ cases and the UK with 6,000+ cases in 2021. While Spain has the least number of cases, with 2,400+ cases in 2021.

  • Most cases of Phenylketonuria are diagnosed in infants due to the high rate of newborn screening. The app-specific data revealed that the highest number of patients affected with Phenylketonuria was found in the age group of

  • According to DelveInsight’s Analysts, Missense mutation cases accounted for 60%, and Nonsense mutations accounted for 6.3% of the total diagnosed prevalent cases of Phenylketonuria in 2021 in the 7MM.

Phenylketonuria Market

The market outlook section of the report helps to build a detailed comprehension of the historical, current and forecasted Phenylketonuria market size by analyzing the impact of current and emerging pipeline therapies. It also provides a thorough assessment of the market drivers & barriers, unmet needs, and emerging technologies set to impact the market dynamics.

The report gives complete detail of the Phenylketonuria market trend for each marketed drug and mid & late-stage pipeline therapies by evaluating their impact based on the annual cost of therapy, their Mechanism of Action (MOA), Route of Administration (ROA), molecule types, competition with other therapies, brand value, and their impact on the market.

Phenylketonuria Epidemiology Assessment 

The epidemiology section provides insights into the historical, current, and forecasted epidemiology trends in the seven major countries (7MM) from 2019 to 2032. It helps to recognize the causes of current and forecasted epidemiology trends by exploring numerous studies and research. The epidemiology section also provides a detailed analysis of diagnosed and prevalent patient pool, future trends, and views of key opinion leaders. 

Report Covers the Phenylketonuria Epidemiology Segmented by –

  • Total Diagnosed Prevalent Cases of Phenylketonuria in the 7MM (2019–2032)

  • Age-specific Diagnosed Prevalent Cases of Phenylketonuria in the 7MM (2019–2032)

  • Severity-specific Diagnosed Prevalent Cases of Phenylketonuria in the 7MM (2019–2032)

  • Diagnosed Prevalent Cases of Phenylketonuria by Mutation Type (2019–2032)

Phenylketonuria Drugs Uptake and Pipeline Development Activities

The drug uptake section focuses on the rate of uptake of the potential drugs recently launched in the Phenylketonuria market or expected to be launched during the study period. The analysis covers the Phenylketonuria market uptake by drugs, patient uptake by therapies, and sales of each drug. Moreover, the therapeutics assessment section helps understand the drugs with the most rapid uptake and the reasons behind the maximal use of the drugs. Additionally, it compares the drugs based on market share.

The report also covers the Phenylketonuria pipeline development activities. It provides valuable insights about different therapeutic candidates in various stages and the key companies involved in developing targeted therapeutics. It also analyses recent developments such as collaborations, acquisitions, mergers, licensing patent details, and other information for emerging therapies.

Learn How the Phenylketonuria Market Will Evolve and Grow by 2032 @

Phenylketonuria Therapeutics Analysis

Several major pharma and biotech giants are developing therapies for Phenylketonuria. Currently,  PTC Therapeutics is leading the therapeutics market with its Phenylketonuria drug candidates in the most advanced stage of clinical development. 

Leading Companies in the Phenylketonuria Therapeutics Market Include:

  • Agios Pharmaceuticals

  • American Gene Technologies

  • APR Applied Pharma Research

  • BioMarin Pharmaceutical

  • Generation Bio

  • Homology Medicine

  • Jnana Therapeutics

  • Moderna

  • Nestlé Health Science

  • PTC Therapeutics

  • SOM Biotech

  • Synlogic

And Many Others

Phenylketonuria Drugs Covered in the Report Include:

  • SYNB1618: Synlogic

  • HMI-102: Homology Medicine

  • Sepiapterin: PTC Therapeutics

  • BMN 307: BioMarin Pharmaceuticals

  • CNSA-001: PTC Therapeutics

And Many More

The Report Covers the In-depth Assessment of the Emerging Drugs & Key Companies. Download the Sample Report to Learn More @

Table of Contents

1. Key Insights

2. Executive Summary 

3. Phenylketonuria Competitive Intelligence Analysis

4. Phenylketonuria Market Overview at a Glance

5. Phenylketonuria Disease Background and Overview

6. Phenylketonuria Patient Journey

7. Phenylketonuria Epidemiology and Patient Population (In the US, EU5, and Japan)

8. Phenylketonuria Treatment Algorithm, Current Treatment, and Medical Practices

9. Phenylketonuria Unmet Needs

10. Key Endpoints of Phenylketonuria Treatment

11. Phenylketonuria Marketed Products

12. Phenylketonuria Emerging Drugs and Latest Therapeutic Advances

13. Phenylketonuria Seven Major Market Analysis

14. Attribute Analysis

15. Phenylketonuria Market Outlook (In US, EU5, and Japan)

16. Phenylketonuria Access and Reimbursement Overview

17. KOL Views on the Phenylketonuria Market

18. Phenylketonuria Market Drivers

19. Phenylketonuria Market Barriers

20. Appendix

21. DelveInsight Capabilities

22. Disclaimer

Download the Sample PDF to Learn More About the Key Offerings of the Report @

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Phenylketonuria Pipeline Insight

“Phenylketonuria Pipeline Insight, 2024” report provides comprehensive insights about 18+ companies and 20+ drugs in the Phenylketonuria pipeline landscape. It covers the pipeline drug profiles, including clinical and nonclinical stage products by stage, route of administration, and molecule type. It further highlights the inactive pipeline products in this space.

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