Maple Syrup Urine Disease Market

Key Highlights

• The Maple Syrup Urine Disease (MSUD) market is anticipated to sustain a steady Compound Annual Growth Rate (CAGR) during the forecast period (2025–2034). This growth is driven by increasing newborn screening programs, rising disease awareness, improvements in dietary management and specialized medical foods, and the continued use of liver transplantation as a curative option.
• The increasing cases of MSUD may be attributed to improved newborn screening programs, greater awareness among healthcare providers and parents, better diagnostic capabilities, and enhanced reporting and disease surveillance systems.
• Lifelong management of MSUD centers on dietary restriction of branched-chain amino acids (BCAAs) with valine and isoleucine supplementation, combined with close metabolic monitoring to prevent catabolism and neurological damage. Acute decompensation is treated with high-calorie support, hydration, and BCAA-free nutrition.
• In May 2025, MAAPLIV received a positive CHMP opinion as a BCAA-free intravenous solution, offering a critical therapeutic option for patients who cannot tolerate oral or enteral formulations, improving the management of severe metabolic crises.
• The limited pipeline activity in MSUD reflects the rarity of the disease, the established effectiveness of dietary management, and the challenges of developing therapies for a small, dispersed patient population, which collectively constrain large-scale pharmaceutical investment.

DelveInsight’s comprehensive report titled “Maple Syrup Urine Disease (MSUD) — Market Insights, Epidemiology, and Market Forecast – 2034” offers a detailed analysis of MSUD. The report presents historical and projected epidemiological data covering, total incident cases of maple syrup urine disease and treated cases of maple syrup urine disease. 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 MSUD. 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.

Future opportunity

The future opportunity in the MSUD treatment market is driven by the growing incidence of diagnosed patients, expanding newborn screening programs, and increasing disease awareness, which together enhance early detection and management. While dietary therapy and liver transplantation remain the mainstays of treatment, innovations such as BCAA-free intravenous solutions like MAAPLIV provide critical options for managing acute metabolic crises, highlighting the potential for improved patient outcomes. Further opportunities exist in optimizing current therapeutic strategies, expanding access to specialized nutritional support, and leveraging advanced diagnostics and genetic insights to tailor individualized care, ultimately supporting better metabolic control and quality of life for patients.

Maple Syrup Urine Disease Overview

MSUD, also known as branched-chain α-ketoacid dehydrogenase deficiency, is a rare autosomal recessive disorder caused by mutations in the BCKDHA, BCKDHB, or DBT genes, leading to defective activity of the branched-chain α-ketoacid dehydrogenase (BCKAD) complex in mitochondria. This enzyme defect impairs the metabolism of the essential branched-chain amino acids (BCAA)—leucine, isoleucine, and valine—resulting in their accumulation and the buildup of toxic ketoacids in blood, brain, and urine. Clinically, MSUD typically presents in the neonatal period with poor feeding, lethargy, irritability, developmental delay, and a characteristic maple syrup odor in cerumen and urine. If untreated, the classic form rapidly progresses to seizures, coma, and death due to severe neurotoxicity. Long-term management requires lifelong dietary restriction of BCAA with regular metabolic monitoring, while acute decompensations demand urgent medical intervention to prevent irreversible neurological injury.

Maple Syrup Urine Disease Diagnosis and Treatment Algorithm

Diagnosis of MSUD involves newborn screening with tandem mass spectrometry, though plasma amino acid analysis detecting elevated alloisoleucine provides the most specific confirmation. Urine organic acid analysis, the dinitrophenylhydrazine (DNPH) test, and ketonuria can support diagnosis, while molecular testing of BCKDHA, BCKDHB, or DBT confirms pathogenic variants and enables genetic counseling. Prenatal and preimplantation testing are feasible when familial variants are known, ensuring timely identification and management.

The treatment of MSUD is lifelong and centers on strict dietary restriction of BCAAs while supplementing valine and isoleucine to promote anabolism and maintain metabolic balance. Thiamine supplementation may benefit responsive patients, while glucose, lipids, and sometimes insulin are used during acute crises to suppress catabolism. Management of metabolic decompensation involves restricting protein, providing high-calorie support, hydration, and in severe cases, dialysis or BCAA-free intravenous solutions. Liver transplantation offers a curative option for severe or refractory cases, eliminating the need for dietary restrictions though not reversing existing neurological damage. Complications such as cerebral edema, infections, or psychiatric disorders require prompt supportive management, and lifelong monitoring by a metabolic team is essential to prevent decompensation and optimize outcomes.

Maple Syrup Urine Disease Epidemiology

The epidemiology section of the MSUD 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 incidence of MSUD. 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

• MSUD occurs worldwide with an estimated incidence of approximately 1 in 185,000 live births.
• According to secondary research, MSUD is estimated to affect about 1 in 100,000 individuals in the UK.
• The epidemiology of MSUD is expected to change during the forecast period (2025-2034).

Maple Syrup Urine Disease Market Outlook

The MSUD therapeutics market is further expected to increase by the major drivers, such as the rising incidence population, technological advancements, and upcoming therapies in the forecast period (2025–2034).

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 DelveInsight, the MSUD market in the 7MM is expected to change significantly during the forecast period 2025–2034.

Maple Syrup Urine Disease Drug Chapters

Marketed Maple Syrup Urine Disease Drugs

MAAPLIV (REC 0545): Recordati Rare Diseases

MAAPLIV, developed by Recordati Rare Diseases, received a positive opinion from the Committee for Medicinal Products for Human Use (CHMP) in May 2025, recommending marketing authorisation under exceptional circumstances for the treatment of MSUD. Designated as an orphan medicine during development, MAAPLIV is formulated as a parenteral solution for infusion composed of amino acids free of BCAA. It is indicated for patients from birth presenting with an acute decompensation episode who are not eligible for oral or enteral BCAA-free formulations. In combination with carbohydrate and lipid supplementation, MAAPLIV prevents or reverses protein catabolism, promotes anabolism, and reduces alpha-keto acid levels, addressing the metabolic imbalance characteristic of MSUD crises.

The benefit of MAAPLIV has been demonstrated through five scientific publications reporting on parenteral use of BCAA-free amino acid solutions with the same formulation, showing effective normalisation of leucine in patients with MSUD decompensation. Reported side effects were uncommon and are outlined in the summary of product characteristics (SmPC). Initiation of treatment should be under the supervision of physicians experienced in MSUD management. Following final approval by the European Commission, the European Medicines Agency will publish detailed prescribing information in all official EU languages. MAAPLIV represents a valuable therapeutic option to stabilise metabolic crises in MSUD patients unable to access standard oral or enteral formulations.

Note: Detailed marketed therapies assessment will be provided in the final report.

Maple Syrup Urine Disease Market Segmentation

DelveInsight’s ‘Maple Syrup Urine Disease (MSUD) – Market Insights, Epidemiology, and Market Forecast – 2034’ report provides a detailed outlook of the current and future MSUD 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.

Maple Syrup Urine Disease Market Size by Countries

The MSUD 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) MSUD market, primarily attributed to the country’s higher incidence 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.

Note: Detailed market segment assessment will be provided in the final report.

Maple Syrup Urine Disease Drugs Uptake

This section focuses on the sales uptake of potential MSUD drugs that have recently been launched or are anticipated to be launched in the MSUD market between 2020 and 2034. It estimates the market penetration of MSUD 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 MSUD market.

The emerging MSUD 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 MSUD market.

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

Maple Syrup Urine Disease Market Access and Reimbursement

DelveInsight’s ‘Maple Syrup Urine Disease (MSUD) – Market Insights, Epidemiology, and Market Forecast – 2034’ report provides a descriptive overview of the market access and reimbursement scenario of MSUD.

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

Maple Syrup Urine Disease: KOL Insights

DelveInsight’s analysts connected with 25+ KOLs to gather insights; however, interviews were conducted with 10+ KOLs in the 7MM. These KOLs were from organizations, institutes, and hospitals, such as Mercer University, US, University Hospital Tübingen, Germany, University of Barcelona, Barcelona, Spain, ellvitge-Idibell University Hospital, Barcelona, Spain, University of Leeds, Leeds, UK, and University of Occupational and Environmental Health, Japan, among others.

“Prompt and accurate diagnosis of MSUD is critical, as the disorder can swiftly cause severe neurological impairment and even death in untreated newborns; clinical vigilance and rapid initiation of dietary modifications are essential for survival and prevention of permanent damage.”

“Lifelong management of MSUD pivots on meticulously restricting dietary intake of branched-chain amino acids, especially leucine, while ensuring adequate nutrition for growth and strictly monitoring metabolic status to prevent both acute crises and chronic complications.”

“Looking forward, developments such as gene therapy and liver transplantation offer hope for transformative outcomes in MSUD by potentially correcting the underlying metabolic defect, reducing the lifelong burden of dietary management, and improving quality of life for affected individuals.”

Note: Detailed assessment of KOL Views will be provided in the full report on Maple Syrup Urine Disease.

Competitive Intelligence Analysis

We conduct a Competitive and Market Intelligence analysis of the MSUD 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.

Maple Syrup Urine Disease Pipeline Development Activities

The report offers an analysis of therapeutic candidates in Phase II and I stages and examines companies involved in developing targeted therapeutics for MSUD. 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 MSUD therapies.

Maple Syrup Urine Disease Report Insights

• Maple Syrup Urine Disease Patient Population
• Therapeutic Approaches
• Maple Syrup Urine Disease Pipeline Analysis
• Maple Syrup Urine Disease Market Size and Trends
• Maple Syrup Urine Disease Market Opportunities
• Impact of Upcoming Therapies

Maple Syrup Urine Disease Report Key Strengths

• 10 Years Forecast
• The 7MM Coverage
• Maple Syrup Urine Disease Epidemiology Segmentation
• Key Cross Competition
• Highly Analyzed Maple Syrup Urine Disease Market
• Maple Syrup Urine Disease Drugs Uptake

Maple Syrup Urine Disease Report Assessment

• Maple Syrup Urine Disease Current Treatment Practices
• Unmet Needs
• Maple Syrup Urine Disease Pipeline Product Profiles
• Maple Syrup Urine Disease Market Attractiveness

Key Questions

• What are the key findings of MSUD 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 MSUD?
• What are the disease risk, burden, and unmet needs of MSUD?
• At what CAGR is the MSUD market and its epidemiology is expected to grow in the 7MM during the forecast period (2025–2034)?
• How would the unmet needs impact the MSUD market dynamics and subsequently influence the analysis of the related trends?
• What would be the forecasted patient pool of MSUD 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 MSUD?

Reasons to buy

• The report will help in developing business strategies by understanding the latest trends and changing treatment dynamics driving the MSUD Market.
• Insights on patient burden/disease incidence, 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 and emerging therapies under the attribute 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

What are the treatment goals for MSUD?

The primary objectives in treating MSUD are to maintain plasma BCAA levels within safe ranges, prevent catabolism and metabolic decompensation, support normal growth and neurodevelopment, and minimize the risk of acute and long-term neurological complications.

What are the challenges in managing MSUD?

Managing MSUD presents challenges such as strict lifelong dietary adherence, risk of acute metabolic decompensation during illness or stress, limited availability of specialized medical foods or parenteral BCAA-free formulations, and the need for continuous biochemical monitoring to prevent neurological damage.

What are the key factors driving the growth of the MSUD market?

The MSUD market is driven by a persistent unmet need for effective management of acute metabolic decompensations, safe and accessible BCAA-free nutritional therapies, improved long-term neurodevelopmental outcomes, and options for patients who cannot tolerate oral or enteral formulations.

How will the MSUD Market and Epidemiology Forecast Report benefit the clients?

The report will provide comprehensive insights into the current MSUD market landscape, emerging therapies, 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.