苯酮尿症治疗市场－全球产业规模、份额、趋势、机会和预测，按给药途径、产品、配销通路、地区和竞争细分，2020-2030 年预测

2024 年全球苯酮尿症 (PKU) 治疗市场价值为 5.0218 亿美元，预计到 2030 年将以 8.25% 的复合年增长率成长。 PKU 是一种罕见的常染色体隐性代谢紊乱，由 PAH 基因突变引起，会削弱人体分解苯丙胺酸（一种存在于富含蛋白质的食物中的胺基酸）的能力。这种酵素的缺乏会导致血液中苯丙胺酸水平升高，如果不加以控制，会对中枢神经系统产生毒性，尤其是在早期发育阶段有害。如果不治疗，苯酮尿症会导致智能障碍、行为障碍、癫痫和其他神经系统损伤。随着欧洲药品管理局 (EMA) 批准的培吉伐利斯 (Palynziq) 等药物的进步，治疗领域正在不断发展，该药物可为治疗效果不佳的苯酮尿症 (PKU) 成人提供有效的苯丙胺酸控制。随着人们认识的提高和包括基于酶的药物和基因疗法在内的新型疗法的出现，市场预计将经历强劲增长，特别是随着长期管理方案改善治疗结果和患者生活品质。

关键市场驱动因素

增加基因治疗研究

主要市场挑战

治疗选择有限

主要市场趋势

营养保健品和补充剂

目录

第 1 章：产品概述

第二章：研究方法

第三章：执行摘要

第四章：顾客之声

第五章：全球苯酮尿症治疗市场展望

• 市场规模和预测
  • 按价值
• 市场占有率和预测
  • 依给药途径（口服、肠胃外）
  • 副产品（膳食补充剂、药物）
  • 按配销通路（医院药房、网路药房、儿科诊所）
  • 按公司分类（2024）
• 市场地图

第六章：亚太地区苯酮尿症治疗市场展望

• 市场规模和预测
• 市场占有率和预测
• 亚太地区：国家分析
  • 中国
  • 印度
  • 澳洲
  • 日本
  • 韩国

第七章：欧洲苯酮尿症治疗市场展望

• 市场规模和预测
• 市场占有率和预测
• 欧洲：国家分析
  • 法国
  • 德国
  • 西班牙
  • 义大利
  • 英国

第八章：北美苯酮尿症治疗市场展望

• 市场规模和预测
• 市场占有率和预测
• 北美：国家分析
  • 美国
  • 墨西哥
  • 加拿大

第九章：南美苯酮尿症治疗市场展望

• 市场规模和预测
• 市场占有率和预测
• 南美洲：国家分析
  • 巴西
  • 阿根廷
  • 哥伦比亚

第十章：中东和非洲苯酮尿症治疗市场展望

• 市场规模和预测
• 市场占有率和预测
• MEA：国家分析
  • 南非
  • 沙乌地阿拉伯
  • 阿联酋

第 11 章：市场动态

• 驱动程式
• 挑战

第 12 章：市场趋势与发展

• 最新动态
• 产品发布
• 併购

第 13 章：全球苯酮尿症治疗市场：SWOT 分析

第 14 章：波特五力分析

• 产业竞争
• 新进入者的潜力
• 供应商的力量
• 顾客的力量
• 替代产品的威胁

第 15 章： 大环境分析

第 16 章：竞争格局

• BioMarin Pharmaceutical Inc.
• Synlogic, Inc.
• Retrophin, Inc.
• Daiichi Sankyo Company, Limited
• Codexis, Inc.
• SOM Innovation Biotech SL
• Homology Medicines, Inc.

第 17 章：策略建议

第18章调查会社について・免责事项

The Global Phenylketonuria (PKU) Treatment Market was valued at USD 502.18 million in 2024 and is projected to grow at a CAGR of 8.25% through 2030. PKU is a rare autosomal recessive metabolic disorder caused by mutations in the PAH gene, which impair the body's ability to break down phenylalanine, an amino acid found in protein-rich foods. This enzymatic deficiency results in elevated phenylalanine levels in the blood, which can be toxic to the central nervous system if left unmanaged-particularly harmful in early development stages. If untreated, PKU can lead to intellectual disability, behavioral challenges, seizures, and other neurological impairments. The therapeutic landscape is evolving with advances such as pegvaliase (Palynziq), approved by the European Medicines Agency (EMA), which offers effective phenylalanine control in adults with poorly managed PKU. As awareness grows and novel therapies emerge, including enzyme-based drugs and gene therapies, the market is expected to experience robust growth, especially as long-term management options improve outcomes and patient quality of life.

Key Market Drivers

Increasing Gene Therapy Research

Gene therapy is emerging as a transformative driver in the PKU treatment market, aiming to correct the underlying genetic defect responsible for the disorder. As PKU stems from mutations in the PAH gene, gene therapy seeks to restore normal enzyme activity and eliminate the lifelong need for restrictive diets and medical foods. In March 2024, Eton Pharmaceuticals strengthened its metabolic product pipeline by acquiring U.S. rights to PKU GOLIKE from Relief Therapeutics-an advanced, taste-masked, extended-release formulation tailored for PKU patients. The acquisition reflects growing commercial interest in expanding therapeutic options. Gene therapies offer a potentially curative approach, improving dietary freedom and quality of life, thereby increasing patient demand and reshaping the future of PKU care. If successful, gene therapy could redefine treatment standards, positioning it as a critical growth driver for the market.

Key Market Challenges

Limited Treatment Options

Despite advances, PKU management remains constrained by limited treatment choices. The standard therapy involves strict adherence to a low-phenylalanine diet, often excluding common protein sources like meat, dairy, and grains. This restrictive approach can impact social experiences and nutritional satisfaction, leading to reduced adherence. Specialized medical foods, though essential, are often unpalatable and limited in variety, presenting additional compliance barriers. Pharmacological treatments like sapropterin (Kuvan) are not effective for all patients, and are typically used in combination with diet. Access to treatment also varies by region, with some patients lacking access to PKU clinics, prescribed formulas, or newer drugs. Furthermore, historically limited investment in PKU research has delayed therapeutic innovation. The heterogeneity of patient responses to treatment further complicates care, reinforcing the need for diverse and individualized treatment approaches.

Key Market Trends

Nutraceuticals and Supplements

The rise of nutraceuticals and supplements tailored for PKU patients marks a significant trend in improving disease management and quality of life. These products serve as essential dietary components, offering amino acid blends, vitamins, and minerals while minimizing phenylalanine intake. Advanced formulations such as low-protein bread, pasta, and functional foods help expand dietary choices for patients. Supplements are often prescribed as medical foods and are developed to fill nutritional gaps caused by dietary restrictions. Personalization is also gaining prominence, with formulations adapted to age, lifestyle, and PKU severity. Enhanced palatability and convenience have made these supplements easier to integrate into daily routines, improving adherence and patient satisfaction. Regulatory frameworks ensure product safety and efficacy, contributing to broader acceptance and sustained market growth for PKU-targeted nutraceuticals.

Key Market Players

• BioMarin Pharmaceutical Inc.
• Synlogic, Inc.
• Retrophin, Inc.
• Daiichi Sankyo Company, Limited
• Codexis, Inc.
• SOM Innovation Biotech SL
• Homology Medicines, Inc.

Report Scope:

In this report, the Global Phenylketonuria Treatment Market has been segmented into the following categories, in addition to the industry trends which have also been detailed below:

Phenylketonuria Treatment Market, By Route of Administration:

• Oral
• Parenteral

Phenylketonuria Treatment Market, By Product:

• Dietary Supplement
• Drugs
  • Biopten
  • Kuvan

Phenylketonuria Treatment Market, By Distribution Channel:

• Hospital Pharmacies
• Online Pharmacies
• Pediatric Clinics

Phenylketonuria Treatment Market, By Region:

• North America
  • United States
  • Canada
  • Mexico
• Asia-Pacific
  • China
  • India
  • South Korea
  • Australia
  • Japan
• Europe
  • Germany
  • France
  • United Kingdom
  • Spain
  • Italy
• South America
  • Brazil
  • Argentina
  • Colombia
• Middle East & Africa
  • South Africa
  • Saudi Arabia
  • UAE

Competitive Landscape

Company Profiles: Detailed analysis of the major companies present in the Global Phenylketonuria Treatment Market.

Available Customizations:

Global Phenylketonuria Treatment Market report with the given market data, TechSci Research offers customizations according to a company's specific needs. The following customization options are available for the report:

Company Information

• Detailed analysis and profiling of additional market players (up to five).

Table of Contents

1. Product Overview

• 1.1. Market Definition
• 1.2. Scope of the Market
  • 1.2.1. Markets Covered
  • 1.2.2. Years Considered for Study
  • 1.2.3. Key Market Segmentations

2. Research Methodology

• 2.1. Objective of the Study
• 2.2. Baseline Methodology
• 2.3. Key Industry Partners
• 2.4. Major Association and Secondary Sources
• 2.5. Forecasting Methodology
• 2.6. Data Triangulation & Validation
• 2.7. Assumptions and Limitations

3. Executive Summary

• 3.1. Overview of the Market
• 3.2. Overview of Key Market Segmentations
• 3.3. Overview of Key Market Players
• 3.4. Overview of Key Regions/Countries
• 3.5. Overview of Market Drivers, Challenges, Trends

4. Voice of Customer

5. Global Phenylketonuria Treatment Market Outlook

• 5.1. Market Size & Forecast
  • 5.1.1. By Value
• 5.2. Market Share & Forecast
  • 5.2.1. By Route of Administration (Oral, Parenteral)
  • 5.2.2. By Product (Dietary Supplement, Drugs)
  • 5.2.3. By Distribution Channel (Hospital Pharmacies, Online Pharmacies, Pediatric Clinics)
  • 5.2.4. By Company (2024)
• 5.3. Market Map

6. Asia Pacific Phenylketonuria Treatment Market Outlook

• 6.1. Market Size & Forecast
  • 6.1.1. By Value
• 6.2. Market Share & Forecast
  • 6.2.1. By Route of Administration
  • 6.2.2. By Product
  • 6.2.3. By Distribution Channel
  • 6.2.4. By Country
• 6.3. Asia Pacific: Country Analysis
  • 6.3.1. China Phenylketonuria Treatment Market Outlook
    • 6.3.1.1. Market Size & Forecast
      • 6.3.1.1.1. By Value
    • 6.3.1.2. Market Share & Forecast
      • 6.3.1.2.1. By Route of Administration
      • 6.3.1.2.2. By Product
      • 6.3.1.2.3. By Distribution Channel
  • 6.3.2. India Phenylketonuria Treatment Market Outlook
    • 6.3.2.1. Market Size & Forecast
      • 6.3.2.1.1. By Value
    • 6.3.2.2. Market Share & Forecast
      • 6.3.2.2.1. By Route of Administration
      • 6.3.2.2.2. By Product
      • 6.3.2.2.3. By Distribution Channel
  • 6.3.3. Australia Phenylketonuria Treatment Market Outlook
    • 6.3.3.1. Market Size & Forecast
      • 6.3.3.1.1. By Value
    • 6.3.3.2. Market Share & Forecast
      • 6.3.3.2.1. By Route of Administration
      • 6.3.3.2.2. By Product
      • 6.3.3.2.3. By Distribution Channel
  • 6.3.4. Japan Phenylketonuria Treatment Market Outlook
    • 6.3.4.1. Market Size & Forecast
      • 6.3.4.1.1. By Value
    • 6.3.4.2. Market Share & Forecast
      • 6.3.4.2.1. By Route of Administration
      • 6.3.4.2.2. By Product
      • 6.3.4.2.3. By Distribution Channel
  • 6.3.5. South Korea Phenylketonuria Treatment Market Outlook
    • 6.3.5.1. Market Size & Forecast
      • 6.3.5.1.1. By Value
    • 6.3.5.2. Market Share & Forecast
      • 6.3.5.2.1. By Route of Administration
      • 6.3.5.2.2. By Product
      • 6.3.5.2.3. By Distribution Channel

7. Europe Phenylketonuria Treatment Market Outlook

• 7.1. Market Size & Forecast
  • 7.1.1. By Value
• 7.2. Market Share & Forecast
  • 7.2.1. By Route of Administration
  • 7.2.2. By Product
  • 7.2.3. By Distribution Channel
  • 7.2.4. By Country
• 7.3. Europe: Country Analysis
  • 7.3.1. France Phenylketonuria Treatment Market Outlook
    • 7.3.1.1. Market Size & Forecast
      • 7.3.1.1.1. By Value
    • 7.3.1.2. Market Share & Forecast
      • 7.3.1.2.1. By Route of Administration
      • 7.3.1.2.2. By Product
      • 7.3.1.2.3. By Distribution Channel
  • 7.3.2. Germany Phenylketonuria Treatment Market Outlook
    • 7.3.2.1. Market Size & Forecast
      • 7.3.2.1.1. By Value
    • 7.3.2.2. Market Share & Forecast
      • 7.3.2.2.1. By Route of Administration
      • 7.3.2.2.2. By Product
      • 7.3.2.2.3. By Distribution Channel
  • 7.3.3. Spain Phenylketonuria Treatment Market Outlook
    • 7.3.3.1. Market Size & Forecast
      • 7.3.3.1.1. By Value
    • 7.3.3.2. Market Share & Forecast
      • 7.3.3.2.1. By Route of Administration
      • 7.3.3.2.2. By Product
      • 7.3.3.2.3. By Distribution Channel
  • 7.3.4. Italy Phenylketonuria Treatment Market Outlook
    • 7.3.4.1. Market Size & Forecast
      • 7.3.4.1.1. By Value
    • 7.3.4.2. Market Share & Forecast
      • 7.3.4.2.1. By Route of Administration
      • 7.3.4.2.2. By Product
      • 7.3.4.2.3. By Distribution Channel
  • 7.3.5. United Kingdom Phenylketonuria Treatment Market Outlook
    • 7.3.5.1. Market Size & Forecast
      • 7.3.5.1.1. By Value
    • 7.3.5.2. Market Share & Forecast
      • 7.3.5.2.1. By Route of Administration
      • 7.3.5.2.2. By Product
      • 7.3.5.2.3. By Distribution Channel

8. North America Phenylketonuria Treatment Market Outlook

• 8.1. Market Size & Forecast
  • 8.1.1. By Value
• 8.2. Market Share & Forecast
  • 8.2.1. By Route of Administration
  • 8.2.2. By Product
  • 8.2.3. By Distribution Channel
  • 8.2.4. By Country
• 8.3. North America: Country Analysis
  • 8.3.1. United States Phenylketonuria Treatment Market Outlook
    • 8.3.1.1. Market Size & Forecast
      • 8.3.1.1.1. By Value
    • 8.3.1.2. Market Share & Forecast
      • 8.3.1.2.1. By Route of Administration
      • 8.3.1.2.2. By Product
      • 8.3.1.2.3. By Distribution Channel
  • 8.3.2. Mexico Phenylketonuria Treatment Market Outlook
    • 8.3.2.1. Market Size & Forecast
      • 8.3.2.1.1. By Value
    • 8.3.2.2. Market Share & Forecast
      • 8.3.2.2.1. By Route of Administration
      • 8.3.2.2.2. By Product
      • 8.3.2.2.3. By Distribution Channel
  • 8.3.3. Canada Phenylketonuria Treatment Market Outlook
    • 8.3.3.1. Market Size & Forecast
      • 8.3.3.1.1. By Value
    • 8.3.3.2. Market Share & Forecast
      • 8.3.3.2.1. By Route of Administration
      • 8.3.3.2.2. By Product
      • 8.3.3.2.3. By Distribution Channel

9. South America Phenylketonuria Treatment Market Outlook

• 9.1. Market Size & Forecast
  • 9.1.1. By Value
• 9.2. Market Share & Forecast
  • 9.2.1. By Route of Administration
  • 9.2.2. By Product
  • 9.2.3. By Distribution Channel
  • 9.2.4. By Country
• 9.3. South America: Country Analysis
  • 9.3.1. Brazil Phenylketonuria Treatment Market Outlook
    • 9.3.1.1. Market Size & Forecast
      • 9.3.1.1.1. By Value
    • 9.3.1.2. Market Share & Forecast
      • 9.3.1.2.1. By Route of Administration
      • 9.3.1.2.2. By Product
      • 9.3.1.2.3. By Distribution Channel
  • 9.3.2. Argentina Phenylketonuria Treatment Market Outlook
    • 9.3.2.1. Market Size & Forecast
      • 9.3.2.1.1. By Value
    • 9.3.2.2. Market Share & Forecast
      • 9.3.2.2.1. By Route of Administration
      • 9.3.2.2.2. By Product
      • 9.3.2.2.3. By Distribution Channel
  • 9.3.3. Colombia Phenylketonuria Treatment Market Outlook
    • 9.3.3.1. Market Size & Forecast
      • 9.3.3.1.1. By Value
    • 9.3.3.2. Market Share & Forecast
      • 9.3.3.2.1. By Route of Administration
      • 9.3.3.2.2. By Product
      • 9.3.3.2.3. By Distribution Channel

10. Middle East and Africa Phenylketonuria Treatment Market Outlook

• 10.1. Market Size & Forecast
  • 10.1.1. By Value
• 10.2. Market Share & Forecast
  • 10.2.1. By Route of Administration
  • 10.2.2. By Product
  • 10.2.3. By Distribution Channel
  • 10.2.4. By Country
• 10.3. MEA: Country Analysis
  • 10.3.1. South Africa Phenylketonuria Treatment Market Outlook
    • 10.3.1.1. Market Size & Forecast
      • 10.3.1.1.1. By Value
    • 10.3.1.2. Market Share & Forecast
      • 10.3.1.2.1. By Route of Administration
      • 10.3.1.2.2. By Product
      • 10.3.1.2.3. By Distribution Channel
  • 10.3.2. Saudi Arabia Phenylketonuria Treatment Market Outlook
    • 10.3.2.1. Market Size & Forecast
      • 10.3.2.1.1. By Value
    • 10.3.2.2. Market Share & Forecast
      • 10.3.2.2.1. By Route of Administration
      • 10.3.2.2.2. By Product
      • 10.3.2.2.3. By Distribution Channel
  • 10.3.3. UAE Phenylketonuria Treatment Market Outlook
    • 10.3.3.1. Market Size & Forecast
      • 10.3.3.1.1. By Value
    • 10.3.3.2. Market Share & Forecast
      • 10.3.3.2.1. By Route of Administration
      • 10.3.3.2.2. By Product
      • 10.3.3.2.3. By Distribution Channel

11. Market Dynamics

• 11.1. Drivers
• 11.2. Challenges

12. Market Trends & Developments

• 12.1. Recent Developments
• 12.2. Product Launches
• 12.3. Mergers & Acquisitions

13. Global Phenylketonuria Treatment Market: SWOT Analysis

14. Porter's Five Forces Analysis

• 14.1. Competition in the Industry
• 14.2. Potential of New Entrants
• 14.3. Power of Suppliers
• 14.4. Power of Customers
• 14.5. Threat of Substitute Product

15. PESTLE Analysis

16. Competitive Landscape

• 16.1. BioMarin Pharmaceutical Inc.
  • 16.1.1. Business Overview
  • 16.1.2. Company Snapshot
  • 16.1.3. Products & Services
  • 16.1.4. Financials (In case of listed companies)
  • 16.1.5. Recent Developments
  • 16.1.6. SWOT Analysis
• 16.2. Synlogic, Inc.
• 16.3. Retrophin, Inc.
• 16.4. Daiichi Sankyo Company, Limited
• 16.5. Codexis, Inc.
• 16.6. SOM Innovation Biotech SL
• 16.7. Homology Medicines, Inc.

17. Strategic Recommendations

18. About Us & Disclaimer