Phenylketonuria Market to Witness Promising Upswing by 2034, DelveInsight Forecasts | PTC Therapeutics, Homology Medicine, Synlogic, BioMarin Pharma

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Phenylketonuria Market to Witness Promising Upswing by 2034, DelveInsight Forecasts | PTC Therapeutics, Homology Medicine, Synlogic, BioMarin Pharma
The Key Phenylketonuria Companies in the market include – PTC Therapeutics, Homology Medicine, Synlogic, BioMarin Pharmaceuticals, and others.

 

The Phenylketonuria market is expected to surge due to the disease’s increasing prevalence and awareness during the forecast period. Furthermore, launching various multiple-stage Phenylketonuria pipeline products will significantly revolutionize the Phenylketonuria market dynamics.

 

DelveInsight’s “Phenylketonuria Market Insights, Epidemiology, and Market Forecast-2034″ report offers an in-depth understanding of the Phenylketonuria, historical and forecasted epidemiology as well as the Phenylketonuria market trends in the United States, EU5 (Germany, Spain, Italy, France, and United Kingdom) and Japan.

 

The Phenylketonuria market report covers emerging drugs, current treatment practices, market share of the individual therapies, and current & forecasted market size from 2020 to 2034. It also evaluates the current treatment practice/algorithm, market drivers & barriers, and unmet medical needs to curate the best of the opportunities and assess the underlying potential of the market.

 

To Know in detail about the Phenylketonuria market outlook, drug uptake, treatment scenario and epidemiology trends, Click here; Phenylketonuria Market Insights

 

Some of the key facts of the Phenylketonuria Market Report:

  • The Phenylketonuria market size is anticipated to grow with a significant CAGR during the study period (2020-2034).

  • In July 2025, PTC Therapeutics, Inc. (NASDAQ: PTCT) announced that the U.S. Food and Drug Administration has approved Sephience (sepiapterin) for treating hyperphenylalaninemia in patients with phenylketonuria (PKU). The approval applies to both adults and children aged one month and older with sepiapterin-responsive PKU. Patients are required to use the drug alongside a phenylalanine-restricted diet. Valued at $3.51 billion, PTC Therapeutics has shown strong financial growth, with a 91% revenue increase over the past year and a solid 67% gross profit margin, according to InvestingPro data.

  • In July 2025, The FDA has approved sepiapterin (Sephience; PTC Therapeutics) for treating adults and children with phenylketonuria (PKU), a rare inherited metabolic disorder affecting the brain and causing phenylalanine (Phe) accumulation, as announced by PTC Therapeutics. Notably, the approval includes broad labeling, allowing its use for treating hyperphenylalaninemia (HPA) in patients aged one month and older with sepiapterin-responsive PKU.

  • In April 2025, BioMarin Pharmaceutical Inc. (Nasdaq: BMRN) announced that the Phase 3 PEGASUS trial of PALYNZIQ® (pegvaliase-pqpz) successfully met its primary efficacy goal, showing a statistically significant reduction in blood phenylalanine (Phe) levels in adolescents aged 12-17 with phenylketonuria (PKU) compared to diet alone. The safety outcomes aligned with the known profile of the drug. PALYNZIQ remains the first and only enzyme therapy approved for adults with PKU. Comprehensive results from the PEGASUS trial will be shared at an upcoming medical conference and submitted to regulatory authorities worldwide later this year to seek approval for adolescent use.

  • In December 2024, Alltrna announced the release of new preclinical data featuring its first tRNA development candidate, AP003. AP003 is a chemically engineered tRNA oligonucleotide delivered via a clinically validated, liver-targeted lipid nanoparticle (LNP) designed to read through the arginine to TGA (Arg-TGA) premature termination codon (PTC). A single dose of AP003 demonstrated strong in vivo restoration of protein production to clinically significant levels in two transgenic mouse models of Stop Codon Diseases: methylmalonic acidemia (MMA) and phenylketonuria (PKU).

  • In October 2024, PTC Therapeutics, Inc. announced that the FDA has accepted the New Drug Application (NDA) for sepiapterin, intended to treat both pediatric and adult patients with phenylketonuria (PKU). The Prescription Drug User Fee Act (PDUFA) target action date is anticipated to be communicated in the Day 74 Letter.

  • In 2023, within the EU4 and the UK, Germany held the largest market size for PKU at around USD 70 million, whereas Spain recorded the smallest market size.

  • In 2023, the United States represented the largest share of the market among the 7MM, comprising approximately 60% of the total market size.

  • Most PKU cases are identified in infants because of widespread newborn screening. Age-specific data showed that the majority of patients with PKU were 14 years or younger, accounting for nearly 60% of cases in the 7MM in 2023.

  • DelveInsight estimates that in 2023, missense mutations represented 60% of the diagnosed prevalent PKU cases, while nonsense mutations accounted for 5% in the 7MM.

  • In 2023, classical PKU had the largest number of cases in the United States, with approximately 11,000 cases reported based on severity-specific data.

  • Several major companies, including Asubio-Pharma/BioMarin Pharmaceutical, PTC Therapeutics, Synlogic, and others, are at the forefront of phenylketonuria treatment. Detailed market sizes by country and therapy type are provided below.

  • Key Phenylketonuria Companies: PTC Therapeutics, Homology Medicine, Synlogic, BioMarin Pharmaceuticals, and others

  • Key Phenylketonuria Therapies: CNSA-001 (PTC923), HMI-102, SYNB1618, BMN-3017, and others

 

Phenylketonuria Overview

Phenylketonuria (PKU) is an inborn error of metabolism that is detectable during the first days of life via routine newborn screening. PKU is characterized by the absence or deficiency of an enzyme called phenylalanine hydroxylase (PAH), responsible for processing the amino acid phenylalanine. Amino acids are the chemical building blocks of proteins and are essential for proper growth and development.

 

Get a Free sample for the Phenylketonuria Market Report:

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Phenylketonuria Epidemiology

The epidemiology section provides insights into the historical, current, and forecasted epidemiology trends in the seven major countries (7MM) from 2020 to 2034. It helps to recognize the causes of current and forecasted trends by exploring numerous studies and views of key opinion leaders. The epidemiology section also provides a detailed analysis of the diagnosed patient pool and future trends.

 

Phenylketonuria Epidemiology Segmentation:

The Phenylketonuria market report proffers epidemiological analysis for the study period 2020–2034 in the 7MM segmented into:

  • Total Prevalence of Phenylketonuria

  • Prevalent Cases of Phenylketonuria by severity

  • Gender-specific Prevalence of Phenylketonuria

  • Diagnosed Cases of Episodic and Chronic Phenylketonuria

 

Download the report to understand which factors are driving Phenylketonuria epidemiology trends @ Phenylketonuria Epidemiological Insights

 

Phenylketonuria Drugs Uptake and Pipeline Development Activities

The drugs uptake section focuses on the rate of uptake of the potential drugs recently launched in the Phenylketonuria market or expected to get launched during the study period. The analysis covers 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 analyzes recent developments such as collaborations, acquisitions, mergers, licensing patent details, and other information for emerging therapies.

 

Phenylketonuria Therapies and Key Companies

  • KUVAN (Sapropterin Hydrochloride): Asubio-Pharma/BioMarin-Pharmaceutical

  • PALYNZIQ (pegvaliase-pqpz/rAvPAL-PEG/BMN 165): BioMarin Pharmaceutical

  • Sepiapterin (PTC923): PTC Therapeutics

  • SYNB1934: Synlogi

  • CNSA-001 (PTC923): PTC Therapeutics

  • HMI-102: Homology Medicine

  • SYNB1618: Synlogic

  • BMN-3017: BioMarin Pharmaceuticals

 

To know more about Phenylketonuria treatment, visit @ Phenylketonuria Medications

 

Phenylketonuria Market Drivers

  • The introduction of novel products

  • Increasing prevalence

  • Awareness about the disease

  • Research and development strategies

  • Widespread newborn screening program

 

Phenylketonuria Market Barriers

  • Unclear comorbidities

  • Limitations associated with the current treatment

 

Scope of the Phenylketonuria Market Report

  • Study Period: 2020–2034

  • Coverage: 7MM [The United States, EU5 (Germany, France, Italy, Spain, and the United Kingdom), and Japan]

  • Key Phenylketonuria Companies: PTC Therapeutics, Homology Medicine, Synlogic, BioMarin Pharmaceuticals, and others

  • Key Phenylketonuria Therapies: CNSA-001 (PTC923), HMI-102, SYNB1618, BMN-3017, and others

  • Phenylketonuria Therapeutic Assessment: Phenylketonuria current marketed and Phenylketonuria emerging therapies

  • Phenylketonuria Market Dynamics: Phenylketonuria market drivers and Phenylketonuria market barriers

  • Competitive Intelligence Analysis: SWOT analysis, PESTLE analysis, Porter’s five forces, BCG Matrix, Market entry strategies

  • Phenylketonuria Unmet Needs, KOL’s views, Analyst’s views, Phenylketonuria Market Access and Reimbursement

 

Discover more about therapies set to grab major Phenylketonuria market share @ Phenylketonuria Treatment Landscape

 

Table of Contents

1. Phenylketonuria Market Report Introduction

2. Executive Summary for Phenylketonuria

3. SWOT analysis of Phenylketonuria

4. Phenylketonuria Patient Share (%) Overview at a Glance

5. Phenylketonuria Market Overview at a Glance

6. Phenylketonuria Disease Background and Overview

7. Phenylketonuria Epidemiology and Patient Population

8. Country-Specific Patient Population of Phenylketonuria

9. Phenylketonuria Current Treatment and Medical Practices

10. Phenylketonuria Unmet Needs

11. Phenylketonuria Emerging Therapies

12. Phenylketonuria Market Outlook

13. Country-Wise Phenylketonuria Market Analysis (2020–2034)

14. Phenylketonuria Market Access and Reimbursement of Therapies

15. Phenylketonuria Market Drivers

16. Phenylketonuria Market Barriers

17. Phenylketonuria Appendix

18. Phenylketonuria Report Methodology

19. DelveInsight Capabilities

20. Disclaimer

21. About DelveInsight

 

About DelveInsight

DelveInsight is a leading Healthcare Business Consultant, and Market Research firm focused exclusively on life sciences. It supports Pharma companies by providing comprehensive end-to-end solutions to improve their performance.

It also offers Healthcare Consulting Services, which benefits in market analysis to accelerate the business growth and overcome challenges with a practical approach.

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