Phenylketonuria Market to Reach New Heights by 2034, Driven by Innovative Therapies and Rising Diagnosis Rates

With several potential therapies, including Sepiapterin (PTC Therapeutics), NGGT002 (NGGT), JNT-517 (Jnana Therapeutics), Pegvaliase (BioMarin), and others under investigation, the phenylketonuria treatment landscape is expected to undergo substantial transformation between 2025 and 2034.

LAS VEGAS, Feb. 18, 2026 /PRNewswire/ — Recently published Phenylketonuria Market Insights report includes a comprehensive understanding of current treatment practices, phenylketonuria emerging drugs, market share of individual therapies, and current and forecasted market size from 2020 to 2034, segmented into leading markets [the United States, the EU4 (Germany, France, Italy, and Spain), the United Kingdom, and Japan].

Phenylketonuria Market Summary

The total phenylketonuria treatment market size is expected to grow positively by 2034 in the leading markets.
The United States accounts for the largest market size of phenylketonuria, in comparison to EU4 (Germany, Italy, France, and Spain), the UK, and Japan.
In 2024, the United States recorded the highest number of diagnosed prevalent PKU cases among the 7MM, with 18,800 cases.
Leading phenylketonuria companies, such as NGGT, Jnana Therapeutics, BioMarin (NASDAQ: BMRN), and others, are developing new phenylketonuria treatment drugs that can be available in the phenylketonuria market in the coming years.
The promising phenylketonuria therapies in clinical trials include NGGT002, JNT-517, Pegvaliase, and others.

Discover what is the current and forecasted market size of phenylketonuria @ https://www.delveinsight.com/sample-request/phenylketonuria-pku-market?utm_source=cision&utm_medium=pressrelease&utm_campaign=spr

Key Factors Driving the Growth of the Phenylketonuria Market

Rising PKU Prevalence: The prevalence of phenylketonuria is rising globally, driven by improved newborn screening and greater awareness of metabolic disorders.
Increased Screening Adoption: Expansion of newborn screening programs globally has led to earlier and more frequent detection of PKU, increasing the number of diagnosed patients entering care pathways.
Emergence of Novel PKU Treatments: The anticipated launch of emerging PKU drugs such as NGGT002 (NGGT), JNT-517 (Jnana Therapeutics), Pegvaliase (BioMarin), and others are expected to boost the PKU market growth in the coming years.

Aparna Thakur, Assistant Project Manager, Forecasting and Analytics at DelveInsight, commented that researchers and other scientists are exploring additional treatments for PKU, such as large neutral amino acid supplementation, which may help prevent phenylalanine from entering the brain, and enzyme replacement therapy. Researchers are also investigating the possibility of using gene therapy, which involves injecting new genes to break down phenylalanine.

Phenylketonuria Market Analysis

The current treatment landscape for phenylketonuria comprises both non-pharmacological and pharmacological approaches designed to maintain safe blood phenylalanine (Phe) levels and prevent neurocognitive and systemic complications.
Pharmacological management of PKU currently includes two FDA-approved therapies with distinct mechanisms of action.
PALYNZIQ (pegvaliase) is an enzyme substitution therapy that utilizes phenylalanine ammonia-lyase (PAL) to metabolize phenylalanine into ammonia and trans-cinnamic acid, completely bypassing the PAH pathway.
SEPHIENCE is a naturally occurring precursor to the enzymatic cofactor BH4, which is essential for phenylalanine hydroxylase (PAH) activity. By this mechanism, Sephience effectively lowers blood phenylalanine (Phe) levels and may benefit a wide spectrum of patients with PKU.
JAVYGTOR, a generic version of sapropterin dihydrochloride, received FDA approval in September 2022, expanding access to BH4-based therapy.
The lack of therapeutic alternatives creates a clear opportunity for new entrants to develop novel or complementary treatment options for PKU.
Several leading companies, including Jnana Therapeutics with JNT-517, NGGT with NGGT002, and others, are actively advancing investigational therapies for PKU across various stages of clinical development.

Phenylketonuria Competitive Landscape

Some of the PKU drugs in the clinical trial landscape include NGGT002 (NGGT), JNT-517 (Jnana Therapeutics), Pegvaliase (BioMarin), and others.

NGGT’s NGGT002 is an investigational gene therapy for phenylketonuria (PKU) currently in Phase I/II clinical development. The program has received Orphan Drug Designation (ODD) and is supported by prior proof-of-concept data from a human investigator-initiated study. In early clinical evaluations, five of six patients receiving the high dose maintained plasma phenylalanine (Phe) concentrations near 120 µmol/L for up to 32 weeks after a single administration. Long-term safety and efficacy outcomes are being assessed in the ongoing trial.

Jnana Therapeutics’ JNT-517 is a first-in-class oral agent that targets the phenylalanine transporter SLC6A19 to reduce circulating Phe levels by inhibiting renal reabsorption. The therapy is designed for use across all PKU patient populations, irrespective of age or genotype, and acts through a novel allosteric mechanism. JNT-517 has received Orphan Drug Designation and Rare Pediatric Disease Designation from the FDA, as well as EU ODD and EMA PRIME eligibility, highlighting its potential to address significant unmet needs in PKU. The drug is currently being evaluated in a Phase III clinical trial in adult patients with phenylketonuria.

The anticipated launch of these emerging therapies are poised to transform the phenylketonuria market landscape in the coming years. As these cutting-edge therapies continue to mature and gain regulatory approval, they are expected to reshape the phenylketonuria market landscape, offering new standards of care and unlocking opportunities for medical innovation and economic growth.

Discover more about what new therapies are coming for PKU @ Phenylketonuria Drugs Market

Recent Developments in the Phenylketonuria Market

In December 2025, PTC Therapeutics, Inc. announced that the Japanese Ministry of Health, Labour and Welfare (MHLW) had approved SEPHIENCE (sepiapterin) for the treatment of phenylketonuria (PKU) in both pediatric and adult patients, covering all age groups and the full range of disease severity.
In October 2025, the FDA agreed to review BioMarin Pharmaceutical Inc.’s supplemental biologics license application (sBLA) for pegvaliase-pqp (Palynziq), seeking approval to extend its use to adolescents aged 12–17 years with phenylketonuria (PKU).
In July 2025, PTC Therapeutics, Inc. announced that SEPHIENCE (sepiapterin) had received FDA approval for use in pediatric and adult patients with phenylketonuria.
In March 2025, PTC Therapeutics presented Phase III APHENITY trial data showing sepiapterin enabled 97% of PKU patients to increase dietary phenylalanine intake by an average of 126%. The therapy benefited patients with classical, non-BH4-responsive genotypes, supporting its potential use across the full PKU patient spectrum.

What is Phenylketonuria?

Phenylketonuria is a rare inherited metabolic disorder in which the body is unable to properly break down an amino acid called phenylalanine, which is found in many protein-containing foods. This happens due to a deficiency or absence of the enzyme phenylalanine hydroxylase, leading to a buildup of phenylalanine in the blood and brain. If left untreated, high phenylalanine levels can cause serious neurological complications, including intellectual disability, developmental delays, behavioral problems, and seizures. PKU is usually detected through newborn screening, and with early diagnosis and lifelong dietary management, primarily a low-phenylalanine diet, individuals with PKU can lead healthy, normal lives.

Phenylketonuria Epidemiology Segmentation

The phenylketonuria epidemiology section provides insights into the historical and current phenylketonuria patient pool and forecasted trends for the leading markets. In 2024, the majority of severity-specific PKU cases in the United States were attributed to classical PKU, accounting for 11,000 reported cases.

The phenylketonuria treatment market report proffers epidemiological analysis for the study period 2020–2034 in the leading markets, segmented into:

Total Diagnosed Prevalent Cases of PKU
Mutation-specific Diagnosed Prevalent Cases of PKU
Age-specific Diagnosed Prevalent Cases of PKU
Severity-specific Diagnosed Prevalent Cases of PKU

Phenylketonuria Market Forecast Report Metrics	Details
Study Period	2020–2034
Coverage	7MM [The United States, the EU4 (Germany, France, Italy, and Spain), the United Kingdom, and Japan].
Phenylketonuria Epidemiology Segmentation	Total Diagnosed Prevalent Cases of PKU, Mutation-specific Diagnosed Prevalent Cases of PKU, Age-specific Diagnosed Prevalent Cases of PKU, and Severity-specific Diagnosed Prevalent Cases of PKU
Key Phenylketonuria Companies	NGGT, Jnana Therapeutics, BioMarin (NASDAQ: BMRN), PTC Therapeutics (NASDAQ: PTCT), and others
Key Phenylketonuria Therapies	NGGT002, JNT-517, Pegvaliase, SEPHIENCE, and others

Scope of the Phenylketonuria Market Report

Therapeutic Assessment: Phenylketonuria current marketed and emerging therapies
Phenylketonuria Market Dynamics: Key Market Forecast Assumptions of Emerging Phenylketonuria Drugs and Market Outlook
Competitive Intelligence Analysis: SWOT analysis and Market entry strategies
Unmet Needs, KOL’s views, Analyst’s views, Phenylketonuria Market Access and Reimbursement

Download the report to understand what are the biggest unmet needs in adult PKU patients @ Phenylketonuria Market Forecast

Table of Contents

1	Phenylketonuria Key Insights
2	Phenylketonuria Market Report Introduction
3	Phenylketonuria (PKU) Market Overview at a Glance
3.1	Market Share (%) Distribution of PKU in 2020
3.2	Market Share (%) Distribution of PKU in 2034
4	Executive Summary of PKU
5	Key Events
6	Disease Background and Overview
6.1	Introduction
6.2	Inheritance of PKU
6.3	Classification of PKU
6.4	Pathophysiology of PKU
6.5	Symptoms of PKU
6.6	Prognosis of PKU
6.7	Diagnosis of PKU
6.8	Differential Diagnosis
6.9	Diagnosis Guidelines
6.10	Treatment
7	Methodology
8	Epidemiology and Patient Population
8.1	Key Findings
8.2	Assumptions and Rationale
8.3	Total Diagnosed Prevalent Cases of PKU in the 7MM
8.4	The United States
8.4.1	Total Diagnosed Prevalent Cases of PKU in the United States
8.4.2	Mutation-specific Diagnosed Prevalent Cases of PKU in the United States
8.4.3	Age-specific Diagnosed Prevalent Cases of PKU in the United States
8.4.4	Severity-specific Diagnosed Prevalent Cases of PKU in the United States
8.5	EU4 and the UK
8.6	Japan
9	Phenylketonuria Patient Journey
10	Marketed Phenylketonuria Drugs
10.1	Key Cross Competition
10.2	PALYNZIQ (PEGVALIASE): BioMarin Pharmaceutical
10.2.1	Product Description
10.2.2	Regulatory Milestone
10.2.3	Other Developmental Activities
10.2.4	Clinical Trials Information
10.2.5	Safety and Efficacy
*To be continued in the report…*
11	Emerging Phenylketonuria Drugs
11.1	Key Cross Competition
11.2	Sepiapterin (PTC923): PTC Therapeutics
11.2.1	Drug Description
11.2.2	Other Developmental Activities
11.2.3	Clinical Trials Information
11.2.4	Safety and Efficacy
11.2.5	Analysts’ Views
11.3	NGGT002: NGGT
11.4	JNT-517: Jnana Therapeutics
*To be continued in the report…*
12	PKU Market: Market Analysis
12.1	Key Findings
12.2	Phenylketonuria Market Outlook
12.3	Attribute Analysis
12.4	Key Phenylketonuria Market Forecast Assumptions
12.5	Total Market Size of Phenylketonuria in the 7MM
12.6	Market Size of Phenylketonuria by Therapies in the 7MM
12.7	Market Size of Phenylketonuria in the United States
12.7.1	Total Market of Phenylketonuria
12.7.2	Market Size of Phenylketonuria by Therapies in the United States
12.8	Market Size of Phenylketonuria in EU4 and the UK
12.9	Market Size of Phenylketonuria in Japan
13	Key Opinion Leaders’ Views on Phenylketonuria
14	Phenylketonuria Market Unmet Needs
15	Phenylketonuria Market SWOT Analysis
16	Market Access and Reimbursement
16.1	The United States
16.2	In EU4 and the UK
16.3	Japan
17	Acronyms and Abbreviations
18	Bibliography
19	Phenylketonuria Market Report Methodology

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