Ornithine Transcarbamylase Deficiency Treatment Market - By Product, By Route of Administration, By Age Group, By Distribution Channel - Global Forecast, 2025 - 2034

Ornithine Transcarbamylase Deficiency Treatment Market Size

The global ornithine transcarbamylase deficiency treatment market was valued at USD 774.2 million in 2024. The market is anticipated to grow from USD 800.2 million in 2025 to USD 1.2 billion in 2034, growing at a CAGR of 4.3% from 2025 to 2034. The major factors that contribute to the growth of the market include the increasing prevalence of urea cycle disorder (UCDs) and technological advancement in gene therapy and precision medicine.
 

For instance, as per the report published by the National Organization for Rare Disease, ornithine transcarbamylase (OTC) deficiency is the most common form of UCD, with an estimated 1 in 14,000 to 1 in 70,000 live births affected globally. Moreover, the increasing prevalence of disease coupled with rising awareness and improved diagnostic tools to identify more cases, leading to an increased demand for treatments, that contribute to the market growth. Thus, the growing incidence of late-onset OTC, particularly in females, is also contributing to a broader treatment base.
 

Furthermore, the market is bolstered by the increasing research and development investment and clinical trials by pharmaceutical companies to develop novel enzyme replacement therapy, gene therapies, and liver-targeted small molecules, contribute to the market growth. Moreover, supportive regulatory environment and orphan drug designation offering financial incentives, market exclusivity, and accelerated approval pathways, contributes to market growth. For instance, the FDA and EMA provide fast-track designations to Ravicti that has market exclusivity until 2028 in the U.S. to encourage research into rare metabolic diseases. This approval aimed to broaden the treatment availability, complementing existing therapies, thereby contributing to the market growth.
 

The ornithine transcarbamylase (OTC) deficiency treatment market refers to the segment of the healthcare industry dedicated to the development, production, and distribution of therapies and interventions for OTC deficiency, a rare genetic disorder that disrupts the urea cycle. This disorder impairs the body’s ability to eliminate nitrogen waste, leading to toxic levels of ammonia in the blood (hyperammonemia).
 

Ornithine Transcarbamylase Deficiency Treatment Market Trends

• The increasing shift towards precision and personalized medicine allows for tailored therapies targeting specific genetic mutations causing OTC deficiency, drives the growth of the market.
• Additionally, current pharmacological approaches, including nitrogen-scavenging drugs such as sodium phenylbutyrate and glycerol phenylbutyrate, are seeing increased demand due to their ability to manage hyperammonemia.
   
• Moreover, the development of gene therapies has shown promise in addressing the underlying cause of OTC deficiency. For instance, Ultragenyx Pharmaceutical’s UX701, an investigational gene therapy, is in clinical trials, demonstrating the potential for long-term correction of the enzyme deficiency. Therefore, the development of advanced therapeutic formulation has enhanced treatment outcomes and reduced recovery times, that is anticipated to boost market growth.
   
• Furthermore, expanding newborn screening programs facilitates early intervention, improving outcomes and driving market demand for OTC treatments.
   
• In addition, the advancement in formulation to offer better patient convenience such as better tolerability, lower volume dosing, and fewer gastrointestinal side effects, drives the growth of the market. Therefore, the introduction of next-generation formulations like Ravicti offers lesser side effects compared to older drugs like Buphenyl, this led to increase in adoption of advanced formulations, thereby contributing to market growth.
   
• For instance, a 2022 study in Molecular Genetics and Metabolism reported >90% adherence for Ravicti compared to 70% for sodium phenylbutyrate due to better palatability.
   
• Additionally, countries such as Japan, South Korea, and China are enhancing their rare disease policies, with subsidies and fast-track approvals for orphan drugs. These regions represent untapped opportunities for branded and generic formulations of OTC drugs. For instance, Japan has over 400 drugs approved under its Orphan Drug Program, including treatments for metabolic conditions like OTC.
   
• Lastly, organizations such as the National Urea Cycle Disorders Foundation (NUCDF) and Global Genes are improving patient outreach, awareness, and fundraising for research and development. These organization helps boosts early recognition, clinical trial enrollment, and drug access globally, thereby contributing to market growth.
   

Ornithine Transcarbamylase Deficiency Treatment Market Analysis

In 2021, the global market was valued at USD 705.7 million. The following year, it saw a slight increase to USD 726.9 million, and by 2023, the market further climbed to USD 749.7 million. Based on product, the global market is divided into Buphenyl, Ravicti, Ammonul, dietary supplements and other products. The Ravicti drug segment dominated the market and was valued at USD 295.7 million in 2024.
 

• Ravicti is a highly effective ammonia scavenger, designed to treat urea cycle disorders (UCDs) like OTC deficiency.
   
• Moreover, Ravicti is an odorless, tasteless liquid, making it more palatable and easier to administer, particularly for pediatric and elderly patients who often struggle with pill-based medications, contributing to their increased adoption.
   
• Furthermore, Ravicti has received approvals in multiple regions, including the U.S., Europe, and Asia-Pacific, broadening its availability to diverse patient populations. The FDA approved its use for children under two years old in 2017, significantly expanding the potential market.

Based on the route of administration, the global ornithine transcarbamylase deficiency treatment market is categorized into oral and intravenous. The oral segment accounted for the highest market share of 62.4% in 2024.
 

• Oral drugs are more convenient compared to intravenous (IV) therapies, requiring less frequent hospital visits. This is particularly important for managing OTC deficiency, as it is a lifelong condition that requires regular treatment.
   
• Moreover, recent advancements in oral drug formulations, such as sustained-release or delayed-release mechanisms, have improved the bioavailability of active ingredients, making oral medications as effective as their IV counterparts. This trend contributes to the expansion of the treatment market as more individuals seek medical attention for such conditions.
   
• Furthermore, oral formulations allow for flexible dosing, which can be tailored based on patient needs, improving treatment customization for managing OTC deficiency.
   

Based on the age group, the global ornithine transcarbamylase deficiency treatment market is categorized into pediatric and adult. The pediatric segment dominated the market in 2024 and is anticipated to grow with a CAGR of 4.1% during the analysis period.
 

• Early diagnosis and awareness of OTC deficiency in neonates and children have significantly improved, contributing to timely treatment interventions. Early detection through newborn screening programs has helped identify affected infants before they experience severe symptoms, contributing the market growth.
   
• For instance, according to a 2021 study published in JAMA Neurology, newborn screening for metabolic disorders, including OTC deficiency, has increased in the U.S. by nearly 30% in the last decade, allowing early interventions and reducing complications associated with untreated OTC deficiency. Thus, the increasing diagnosis rate improved therapeutics, and a greater focus on rare pediatric diseases are shaping the future growth of the market.
   
• Moreover, the development of more effective, child-friendly treatment options for pediatric patients has driven the adoption of therapies, driving market growth.
   

Based on the distribution channel, the global ornithine transcarbamylase deficiency treatment market is categorized into hospital pharmacies, retail pharmacies, and online pharmacies. The hospital pharmacies segment dominated the market in 2024 and is anticipated to reach USD 554.6 million by 2034.
 

• OTC deficiency treatments often require personalized dosing and careful monitoring, which is best managed in hospitals where patients can be monitored by healthcare professionals. Hospital pharmacies provide the necessary expertise in managing complex regimens, especially for pediatric patients and those with severe symptoms.
   
• Additionally, hospital pharmacies play a central role in the compounding, dispensing, and administration of specialized medications like Ammonul (sodium phenylbutyrate), which is commonly prescribed for OTC deficiency. Pharmacists also provide counseling, helping ensure adherence to treatment regimens.
   
• Moreover, as treatments for OTC deficiency are high-cost therapies, reimbursement policies by governments and insurance companies often make hospital pharmacies the primary point for dispensing such medications, as they are covered under medical plans rather than retail pharmacy benefits drives the market growth.

The North America ornithine transcarbamylase deficiency treatment market dominated the global market with a market share of 45.4% in 2024. The market is driven by high awareness and access to specialized metabolic disorder centers, higher incidence in North America due to carrier detection and family testing and strong industry presence and supply chain integration.
 

The U.S. market was valued at USD 288.1 million and USD 296.6 million in 2021 and 2022, respectively. The market size reached USD 315.6 million in 2024, growing from USD 305.8 million in 2023.
 

• The increasing healthcare expenditure in the U.S. ensures that patients with rare diseases like OTC deficiency have better access to treatments, either through public healthcare systems or private insurance, that further contribute to market growth.
   
• Moreover, the increasing number of collaborations between pharmaceutical companies, research institutions, and biotech firms is accelerating the development of treatments for rare diseases like OTC deficiency. contributes to the growth of the treatment market.
   
• Furthermore, in the U.S., the FDA’s Orphan Drug Act incentivizes the development of treatments for rare diseases, which has resulted in expedited drug approvals for OTC deficiency treatments. Government initiatives provide funding and incentives for research in this field.
   

Europe ornithine transcarbamylase deficiency treatment market accounted for USD 198.2 million in 2024 and is anticipated to show lucrative growth over the forecast period.
 

• Many European countries are increasingly incorporating urea cycle disorders (UCDs) into mandatory newborn screening panels. For instance, Germany, Italy, and the Netherlands have added ammonia-related metabolic disorders to their panels.
   
• This has led to early diagnosis, which increases lifetime patient value through early initiation of chronic therapies like Ravicti, Buphenyl, and amino acid supplements.
   
• Moreover, emerging biotech’s in Europe (e.g., Orchard Therapeutics) and partnerships with US-based rare disease companies signal strong licensing interest in Europe.
   
• Expanding pipeline drugs for OTC, such as AAV-based gene therapies, are expected to enter early access or compassionate use programs by 2026–2028., thereby aiding market growth.
   

Germany shows strong growth potential in the ornithine transcarbamylase deficiency treatment market.
 

• The German government, through the AMNOG (Act on the Reform of the Market for Medicinal Products), offers favorable reimbursement policies for orphan drugs, making OTC deficiency treatments more accessible to patients. This support enhances the adoption of novel therapies in clinical settings and drives the market growth.
   
• Moreover, Germany has an aging population, which increases the demand for healthcare services. As more individuals with UCDs survive into adulthood due to better treatment options, the demand for ongoing management of OTC deficiency in adult populations is rising.
   
• Furthermore, Germany's medical community is highly active in rare disease awareness, and numerous organizations (such as the German Society for Pediatric Metabolism and Endocrinology) work to educate healthcare providers about OTC deficiency and its treatment options contributing to market growth.
   

The ornithine transcarbamylase deficiency treatment market in Asia Pacific is estimated to grow at a CAGR of 4.6% over the next few years.
 

• The expansion of healthcare system, including specialized medical centers and hospitals, particularly in developing economies, has improved the availability of treatments for rare diseases like OTC deficiency.
   
• Moreover, with improvements in genetic screening and awareness, more cases of OTC deficiency are being diagnosed. OTC deficiency is a rare genetic disorder caused by mutations in the OTC gene, leading to an inability to metabolize ammonia.
   
• Furthermore, several new therapeutic options for OTC deficiency are being introduced in the Asia Pacific market. Additionally, treatments such as sodium phenylbutyrate (used to lower ammonia levels) and gene therapies are gaining attention due to their ability for managing or curing the disorder and improving the quality of life for affected individuals, thereby contributing to market growth.
   

China ornithine transcarbamylase deficiency treatment market is predicted to grow significantly over the forecast period.
 

• Rising availability of newborn screening and genetic testing. In addition, private companies such as BGI Genomics offer whole exome sequencing (WES) and next-generation sequencing (NGS) for urea cycle disorders.
   
• Earlier diagnosis enables timely treatment initiation, increasing demand for long-term drugs like glycerol phenylbutyrate and arginine/citrulline.
   

Brazil's ornithine transcarbamylase deficiency treatment market is projected to witness growth in coming years.
 

• OTC deficiency is a rare inherited disorder, but it is still a significant concern for the Brazilian population, as it is a genetic disorder that can be present across various regions. The prevalence of urea cycle disorders, including OTC deficiency, is estimated to be around 1 in 40,000 live births worldwide. Brazil’s population size (approximately 213 million) contributes to a notable number of affected individuals, which drives the demand for treatment options.
   
• Furthermore, Brazil has seen a steady rise in healthcare spending over the past decade, especially in private healthcare sectors. This has improved access to rare disease treatments and advanced therapies, creating a growing demand for OTC deficiency treatments, that contribute to market growth.
   

Saudi Arabia is anticipated to grow in the Middle East and African ornithine transcarbamylase deficiency treatment market.
 

• OTC deficiency, a genetic disorder affecting the urea cycle, has gained more attention in Saudi Arabia in recent years due to enhanced awareness campaigns and genetic counseling programs. This has resulted in more diagnoses of OTC deficiency, which drives demand for effective treatment options.
   
• Moreover, Saudi Arabia has established specialized centers for genetic disorders and rare diseases, offering advanced treatment options for OTC deficiency, such as the use of nitrogen-scavenging drugs and liver transplant services.
   

Ornithine Transcarbamylase Deficiency Treatment Market Share

Competition in the ornithine transcarbamylase deficiency treatment industry is marked by well-established companies, emerging firms, and local players fighting to capture a larger share of the market. The top 5 players such as Ultragenyx Pharmaceutical Inc, Acer Therapeutics, Nutricia (Danone Group), OrphanPacific, and Mead Johnson Nutrition (Reckitt Benckiser) account for approximately 62% of the global market. These key players focus on various strategies such as acquisitions, business expansion and novel product launches to consolidate their market presence.
 

Additionally, there are several local and regional players operating in the market who are boosting competition by providing affordable therapeutics at lower costs. These players are also involved in several strategies such as mergers, acquisitions, and novel product launches to expand their product offering. The competitive landscape in the market is characterized by a mix of global pharmaceutical companies and regional players. Established pharmaceutical giants offer well-known ornithine transcarbamylase deficiency treatment under various brand names. Companies are focusing on product differentiation, regulatory approvals, and strategic partnerships to strengthen their position in this competitive market.
 

Ornithine Transcarbamylase Deficiency Treatment Market Companies

The company profile section includes both companies that have commercial drug available in the market as well as those that are onto clinical phase development. Prominent players operating in the market are as mentioned below:

• Abbott Laboratories
• Acer Therapeutics
• Amgen
• Arcturus Therapeutics
• Bausch Health Companies
• Nutricia (Danone Group)
• Mead Johnson (Reckitt Benckiser)
• Nestle
• OrphanPacific
• Ultragenyx Pharmaceutical 
   
• Ultragenyx is a leading player in the OTC deficiency market, recognized for its strong rare disease portfolio and commitment to patient-centric solutions. The company’s flagship product Ravicti (glycerol phenylbutyrate) offers chronic, oral, ammonia control with improved palatability and tolerability, especially in pediatric populations.
   
• Acer Therapeutics differentiates itself with a reformulated oral sodium phenylbutyrate product (ACER-001), developed to address taste and tolerability issues associated with existing ammonia-scavenging therapies. The company is focused on low-cost, high-value innovation in rare diseases and works with regulators in both the U.S. and Europe to expedite access under orphan drug pathways.
   
• Nutricia, a division of Danone Group, is a global leader in metabolic nutrition, providing specialized medical foods for urea cycle disorders including OTC deficiency. The company collaborates with metabolic clinics and pediatricians to tailor nutritional plans for patients with genetic and enzymatic deficiencies.
   

Ornithine Transcarbamylase Deficiency Treatment Industry News

• In January 2025, Precision BioSciences, Inc. announced that its partner iECURE has reported clinical efficacy and safety data in the first patient dosed with ECUR-506 in the Phase 1/2 OTC-HOPE study. ECUR-506 is iECURE’s in vivo gene insertion program designed to treat neonatal onset Ornithine Transcarbamylase (OTC) deficiency utilizing a PCSK9-specific ARCUS nuclease, licensed from Precision, that enables insertion of a functional copy of the OTC gene.
   
• In August 2023, Bloomsbury Genetic Therapies Limited, announced that the U.S. Food and Drug Administration (FDA) has granted Orphan Drug Designation (ODD) for BGT-OTCD, the Company’s investigational liver-targeted gene therapy for the treatment of OTCD. This helped the company expand its product range.
   
• In September 2022, iECURE, announced that the U.S. Food and Drug Administration (FDA) has granted orphan drug designation to its lead product candidate GTP-506, an investigational product, for the treatment of ornithine transcarbamylase (OTC) deficiency. This approval aimed to broaden the treatment availability, complementing existing therapies.
   

The ornithine transcarbamylase deficiency treatment market research report includes in-depth coverage of the industry with estimates and forecast in terms of revenue in USD Million from 2021 – 2034 for the following segments:

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Market, By Product

• Buphenyl
• Ravicti
• Ammonul
• Dietary supplements
• Other products

Market, By Route of Administration

• Oral
• Intravenous

Market, By Age Group

• Pediatrics
• Adults

Market, By Distribution Channel

• Hospital pharmacies
• Retail pharmacies
• Online pharmacies

The above information is provided for the following regions and countries:

• North America
  • U.S.
  • Canada
• Europe
  • Germany
  • UK
  • France
  • Spain
  • Italy
  • Netherlands
• Asia Pacific
  • China
  • India
  • Japan
  • Australia
  • South Korea 
• Latin America
  • Brazil
  • Mexico
  • Argentina 
• Middle East and Africa
  • South Africa
  • Saudi Arabia
  • UAE