Argininosuccinic Aciduria - Market Insight, Epidemiology, and Market Forecast - 2034

Key Highlights

• The argininosuccinic aciduria market is anticipated to sustain a steady Compound Annual Growth Rate (CAGR) during the forecast period (2025-2034). This growth in market revenue is primarily propelled by advancements in diagnostic techniques, heightened awareness of the condition, and a growing number of reported cases.
• Increased detection of argininosuccinic aciduria is driven by expanded newborn screening, and advances in genetic testing, enabling identification of both classic and milder forms.
• Treatment of argininosuccinic aciduria focuses on preventing hyperammonemia and managing long-term complications through dietary restrictions, arginine supplementation, and nitrogen-scavenging agents like RAVICTI (glycerol phenylbutyrate). Acute crises require intensive metabolic support, while liver transplant is an option for those not responding to conventional therapy.
• Amgen’s RAVICTI currently stands as the only approved therapy for argininosuccinic aciduria, reflecting both its clinical relevance and the lack of alternative treatment options - positioning it as a key player in an underpenetrated and evolving market.
• Argininosuccinic aciduria remains difficult to manage, with current treatments often falling short in preventing hyperammonemia, liver damage, and neurocognitive decline. The high disease burden and limited efficacy of existing options highlight a clear need for targeted, disease-modifying therapies that go beyond metabolic control to improve long-term outcomes.

The analyst’s comprehensive report titled “Argininosuccinic Aciduria - Market Insights, Epidemiology, and Market Forecast - 2034” offers a detailed analysis of argininosuccinic aciduria. The report presents historical and projected epidemiological data covering total prevalent cases of argininosuccinic aciduria, total diagnosed prevalent cases of argininosuccinic aciduria, and treated cases of argininosuccinic aciduria. In addition to epidemiology, the market report encompasses various aspects related to the patient population. These aspects include the diagnosis process, prescription patterns, physician perspectives, market accessibility, treatment options, and prospective developments in the market across seven major markets: the United States, EU4 (Germany, France, Italy, and Spain), the United Kingdom, and Japan, spanning from 2020 to 2034.

The report analyzes the existing treatment practices and unmet medical requirements in argininosuccinic aciduria. It evaluates the market potential and identifies potential business prospects for enhancing therapies or interventions. This valuable information enables stakeholders to make well-informed decisions regarding product development and strategic planning for the market.

Argininosuccinic Aciduria Overview

Argininosuccinic aciduria (ASA) is a rare autosomal recessive metabolic disorder caused by a deficiency of the enzyme argininosuccinate lyase (ASL), a key component of the urea cycle responsible for removing excess nitrogen from the body. Its deficiency impairs the conversion of ammonia - a toxic byproduct of protein breakdown - into urea, leading to dangerous hyperammonemia. This accumulation of ammonia can severely affect the central nervous system, particularly during periods of stress or illness when protein breakdown increases. While symptoms typically emerge in infancy, ASA may also cause issues beyond ammonia buildup due to the enzyme’s broader biological role.

Infants with ASA may show symptoms within the first few days of life, including poor feeding, vomiting, lethargy, floppiness, rapid breathing, dehydration, and seizures - often triggered by rising ammonia levels, which can become life-threatening if not managed promptly. In some cases, symptoms appear later and may include developmental delays, learning difficulties, and potential liver involvement. Managing ASA requires careful dietary balance: adequate protein is essential for growth, but excess intake or increased protein breakdown can raise ammonia levels and trigger metabolic crises.

Argininosuccinic Aciduria Diagnosis and Treatment Algorithm

Diagnosis of ASA is typically suspected in newborns presenting with unexplained vomiting, lethargy, or irritability alongside elevated ammonia levels. Biochemical testing often shows increased citrulline and elevated argininosuccinic acid in blood or urine, distinguishing ASA from other metabolic or urea cycle disorders. Confirmation is achieved through molecular genetic testing identifying mutations in the ASL gene. Early and accurate diagnosis is critical to prevent severe neurological complications.

Treatment of ASA focuses on controlling ammonia levels through a multidisciplinary approach involving dietary management, supplementation, and alternative pathway therapies. A low-protein, high-calorie diet, supplemented with essential amino acids and arginine, helps limit nitrogen buildup while supporting growth. Arginine aids nitrogen excretion but must be carefully dosed, especially in patients with liver involvement.

During hyperammonemic crises, rapid intervention with nitrogen scavengers - such as sodium benzoate, sodium phenylbutyrate, or glycerol triphenylbutyrate - is critical. Long-term care often includes genetic counseling and supportive therapies for developmental delays. Despite optimal management, some patients may still experience neurocognitive and behavioral complications.

Argininosuccinic Aciduria Epidemiology

The epidemiology section of the argininosuccinic aciduria market report offers information on the patient populations, including historical and projected trends for each of the seven major markets. Examining key opinion leader views from physicians or clinical experts can assist in identifying the reasons behind historical and projected trends. The diagnosed patient pool, their trends, and the underlying assumptions are all included in this section of the report.

This section also presents the data with relevant tables and graphs, offering a clear and concise view of the prevalence of argininosuccinic aciduria. Additionally, the report discloses the assumptions made during the analysis, ensuring data interpretation and presentation transparency. This epidemiological data is valuable for understanding the disease burden and its impact on the patient population across various regions.

Key Findings

It was found that parents of children with ASA are carriers of the condition. Carriers do not have ASA themselves because the second gene in the pair functions normally. When both parents are carriers, each pregnancy carries the following risks: a 25% chance (1 in 4) that the baby will have ASA, a 50% chance (1 in 2) that the baby will be a carrier, and a 25% chance (1 in 4) that the baby will inherit two working genes and neither have ASA nor be a carrier.

It was found that ASA affects approximately 1 in every 70,000 newborns in the US.

The birth prevalence of ASA in Germany was found to be 1 in 292,000 newborns.

In Italy, the birth prevalence of ASA was found to be 1 in 189,740 newborns.

In Japan, the birth prevalence of ASA was found to be 1 in 1,121,000 newborns.

The epidemiology of argininosuccinic aciduria is expected to change during the forecast period (2025-2034).

Argininosuccinic Aciduria Market Outlook

Argininosuccinic aciduria therapeutics market is further expected to increase by the major drivers, such as the rising prevalent population, technological advancements, and upcoming therapies in the forecast period (2025-2034).

In February 2013, the US FDA approved RAVICTI for the chronic management of certain UCDs in patients aged 2 years and older.

With ongoing research and continued dedication, the future holds hope for even more effective treatments and, ultimately, a cure for this challenging condition. According to the analyst, the Argininosuccinic Aciduria market in the 7MM is expected to change significantly during the study period 2020-2034.

Argininosuccinic Aciduria Drug Chapters

Marketed Argininosuccinic Aciduria Drugs

RAVICTI (glycerol phenylbutyrate): Amgen

RAVICTI is a nitrogen-binding agent used for the chronic management of urea cycle disorders (UCDs), a group of rare, inherited conditions caused by enzyme or transporter deficiencies required for converting ammonia into urea. These deficiencies lead to toxic accumulation of ammonia in the blood and brain. RAVICTI is a triglyceride composed of three molecules of phenylbutyric acid (PBA), which is metabolized into phenylacetic acid (PAA), the active component. PAA binds with glutamine, a nitrogen-rich amino acid, in the liver and kidneys to form phenylacetylglutamine (PAGN), which is excreted by the kidneys. PAGN, like urea, carries two nitrogen atoms and serves as an alternative pathway for nitrogen elimination.

RAVICTI is indicated for patients with UCDs who are not adequately managed by dietary protein restriction and/or amino acid supplementation alone and should be used in combination with dietary restrictions and supplements when required.

Argininosuccinic Aciduria Market Segmentation

The analyst’s ‘Argininosuccinic Aciduria - Market Insights, Epidemiology, and Market Forecast - 2034’ report provides a detailed outlook of the current and future argininosuccinic aciduria market, segmented within countries, by therapies, and by classes. Further, the market of each region is then segmented by each therapy to provide a detailed view of the current and future market share of all therapies.

Argininosuccinic Aciduria Market Size by Countries

The Argininosuccinic Aciduria market size is assessed separately for various countries, including the United States, EU4 (Germany, France, Italy, and Spain), the UK, and Japan. In 2024, the United States held a significant share of the overall 7MM (Seven Major Markets) argininosuccinic aciduria market, primarily attributed to the country’s higher prevalence of the condition and the elevated cost of the available treatments. This dominance is projected to persist, especially with the potential early introduction of new products.

Argininosuccinic Aciduria Drugs Uptake

This section focuses on the sales uptake of potential argininosuccinic aciduria drugs that have recently been launched or are anticipated to be launched in the argininosuccinic aciduria market between 2020 and 2034. It estimates the market penetration of argininosuccinic aciduria drugs for a given country, examining their impact within and across classes and segments. It also touches upon the financial and regulatory decisions contributing to the probability of success (PoS) of the drugs in the argininosuccinic aciduria market.

The emerging argininosuccinic aciduria therapies are analyzed based on various attributes such as safety and efficacy in randomized clinical trials, order of entry and other market dynamics, and the unmet need they fulfill in the argininosuccinic aciduria market.

Note: Detailed assessment of drug uptake and attribute analysis will be provided in the full report on Argininosuccinic Aciduria.

Argininosuccinic Aciduria Market Access and Reimbursement

The analyst’s ‘Argininosuccinic Aciduria - Market Insights, Epidemiology, and Market Forecast - 2034’ report provides a descriptive overview of the market access and reimbursement scenario of argininosuccinic aciduria.

This section includes a detailed analysis of the country-wise healthcare system for each therapy, enlightening the market access, reimbursement policies, and health technology assessments.

KOL Views

To keep up with current argininosuccinic aciduria market trends and fill gaps in secondary findings, we interview KOLs and SMEs’ working in the argininosuccinic aciduria domain. Their opinion helps understand and validate current and emerging therapies and treatment patterns or argininosuccinic aciduria market trends. This will support the clients in potential upcoming novel treatments by identifying the overall scenario of the market and the argininosuccinic aciduria unmet needs.

Argininosuccinic Aciduria: KOL Insights

The analyst’s analysts connected with 30+ KOLs to gather insights; however, interviews were conducted with 15+ KOLs in the 7MM. These KOLs were from organizations, institutes, and hospitals, such as Baylor College of Medicine, US; University Hospital Heidelberg, Germany; Great Ormond Street Hospital for Children NHS Foundation Trust, UK; Gunma University Graduate School of Medicine, Japan, and others.
“Argininosuccinate lyase deficiency impairs the urea cycle, leading to toxic hyperammonemia and secondary arginine depletion. Emerging evidence indicates that beyond its metabolic role, the enzyme may also influence nitric oxide synthesis and exert systemic effects, underscoring its broader physiological significance and potential as a therapeutic target.”
“Diagnosis primarily depends on clinical suspicion supported by biochemical findings, including elevated plasma or urinary ammonia and argininosuccinic acid levels. Definitive confirmation is achieved through molecular genetic analysis. In certain regions, newborn screening programs facilitate early identification, enabling timely intervention and improved outcomes.
“Management of argininosuccinic aciduria demands a multidisciplinary strategy, combining protein restriction, ammonia-scavenging therapies, and arginine supplementation - though long-term arginine use poses hepatic concerns. Emerging options like nitric oxide supplementation and gene therapy offer promise for addressing unresolved systemic complications.”
Note: Detailed assessment of KOL Views will be provided in the full report on Argininosuccinic Aciduria.

Competitive Intelligence Analysis

We conduct a Competitive and Market Intelligence analysis of the argininosuccinic aciduria Market, utilizing various Competitive Intelligence tools such as SWOT analysis and Market entry strategies. The inclusion of these analyses is contingent upon data availability, ensuring a comprehensive and well-informed assessment of the market landscape and competitive dynamics.

Argininosuccinic Aciduria Pipeline Development Activities

The report offers an analysis of therapeutic candidates in various stages and examines companies involved in developing targeted therapeutics for argininosuccinic aciduria. It provides valuable insights into the advancements and progress of potential treatments in clinical development for this condition.

Pipeline Development Activities

The report covers information on collaborations, acquisition and merger, licensing, patent details, and other information for emerging argininosuccinic aciduria therapies.

Argininosuccinic Aciduria Report Insights

• Argininosuccinic Aciduria Patient Population
• Therapeutic Approaches
• Argininosuccinic Aciduria Pipeline Analysis
• Argininosuccinic Aciduria Market Size and Trends
• Argininosuccinic Aciduria Market Opportunities
• Impact of Upcoming Therapies

Argininosuccinic Aciduria Report Key Strengths

• 10 Years Forecast
• The 7MM Coverage
• Argininosuccinic Aciduria Epidemiology Segmentation
• Key Cross Competition
• Highly Analyzed Argininosuccinic Aciduria Market
• Argininosuccinic Aciduria Drugs Uptake

Argininosuccinic Aciduria Report Assessment

• Argininosuccinic Aciduria Current Treatment Practices
• Unmet Needs
• Argininosuccinic Aciduria Pipeline Product Profiles
• Argininosuccinic Aciduria Market Attractiveness

Key Questions

• How common is argininosuccinic aciduria?
• What are the key findings of argininosuccinic aciduria epidemiology across the 7MM, and which country will have the highest number of patients during the study period (2020-2034)?
• What are the currently available treatments for argininosuccinic aciduria?
• What are the disease risk, burden, and unmet needs of argininosuccinic aciduria?
• At what CAGR is the argininosuccinic aciduria market and its epidemiology is expected to grow in the 7MM during the forecast period (2025-2034)?
• How would the unmet needs impact the argininosuccinic aciduria market dynamics and subsequently influence the analysis of the related trends?
• What would be the forecasted patient pool of argininosuccinic aciduria in the 7MM covering the United States, EU4 (Germany, France, Italy, and Spain), the UK, and Japan?
• Among EU4 and the UK, which country will have the highest number of patients during the forecast period (2025-2034)?
• How many companies are currently developing therapies for the treatment of argininosuccinic aciduria?

Reasons to buy

• The report will help in developing business strategies by understanding the latest trends and changing treatment dynamics driving the argininosuccinic aciduria Market.
• Insights on patient burden/disease prevalence, evolution in diagnosis, and factors contributing to the change in the epidemiology of the disease during the forecast years
• To understand the existing market opportunity in varying geographies and the growth potential over the coming years.
• Distribution of historical and current patient share based on real-world prescription data along with reported sales of current treatment in the US, EU4 (Germany, France, Italy, and Spain), the United Kingdom, and Japan.
• Identification of strong upcoming players in the market will help in devising strategies that will help in getting ahead of competitors.
• Detailed analysis and ranking of class-wise potential current therapies under the conjoint analysis section to provide visibility around leading classes.
• Highlights of Access and Reimbursement policies of approved therapies, barriers to accessibility of off-label expensive therapies, and patient assistance programs.
• To understand the perspective of Key Opinion Leaders around the accessibility, acceptability, and compliance-related challenges of existing treatment to overcome barriers in the future.
• Detailed insights on the unmet needs of the existing market so that the upcoming players can strengthen their development and launch strategy.

Frequently Asked Questions

1. What are the treatment goals for argininosuccinic aciduria?

The primary treatment goals for argininosuccinic aciduria are to prevent hyperammonemia and its neurotoxic effects by managing nitrogen balance through dietary protein restriction, arginine supplementation, and ammonia-scavenging agents. Long-term goals focus on minimizing neurological damage, supporting growth and development, and addressing complications such as liver dysfunction.

2. What are the challenges in managing argininosuccinic aciduria?

Managing argininosuccinic aciduria is challenging due to the risk of recurrent hyperammonemic crises, lifelong dietary restrictions, and the need for strict metabolic monitoring. Additionally, complications like liver dysfunction, cognitive impairment, and hypertension persist despite standard therapies, highlighting the need for more targeted treatments.

3. What are the key factors driving the growth of the argininosuccinic aciduria market?

The argininosuccinic aciduria market is propelled by factors like increasing prevalence, medical advancements, and rising awareness. These elements fuel demand for innovative treatments, addressing unmet medical needs and driving market expansion.

4. How will the argininosuccinic aciduria Market and Epidemiology Forecast Report benefit the clients?

The report will provide comprehensive insights into the current argininosuccinic aciduria market landscape, competitive dynamics, regulatory requirements, and market access considerations, enabling informed decision-making, strategic planning, and optimization of business strategies to capitalize on market opportunities and drive growth.

This product will be updated with the latest data at the time of order. Consequently, dispatch time for this product will be 7-10 business days.