Methylmalonic Acidemia Market

Market Overview:

The 7 major methylmalonic acidemia markets reached a value of USD 966.5 Million in 2024. Looking forward, IMARC Group expects the 7MM to reach USD 1,659.5 Million by 2035, exhibiting a growth rate (CAGR) of 5.04% during 2025-2035.

The methylmalonic acidemia market has been comprehensively analyzed in IMARC's new report titled "Methylmalonic Acidemia Market: Epidemiology, Industry Trends, Share, Size, Growth, Opportunity, and Forecast 2025-2035". Methylmalonic acidemia (MMA) is a rare, genetic metabolic disorder due to a deficiency of the enzyme methylmalonyl-CoA mutase or abnormalities in its cofactor, adenosylcobalamin, which is derived from vitamin B12. The enzyme is important in the breakdown of some amino acids and fatty acids. Gene mutations in the genes MUT, MMAA, MMAB, MMADHC, and MCEE disrupt this metabolic pathway so that methylmalonic acid levels rise in blood and tissues. Its toxic amounts lead to profuse metabolic acidosis, neuropsychiatric manifestations, and multisystem involvement as in renal impairment, pancreatitis, and retarded growth. The different forms range from neonatally onset severe forms, being lethal, and late-onset, with moderate forms. Affected individuals usually develop frequent metabolic crises caused by infection, fasting, or stress and characterized by lethargy, vomiting, hypotonia, respiratory distress, and coma. Diagnosis is based on newborn screening programs that identify elevated propionylcarnitine concentrations followed by confirmatory biochemical studies quantifying plasma methylmalonic acid levels. Genetic analysis determines the particular mutation that directs the course of treatment such as dietary treatment, vitamin B12 therapy, and organ transplantation in the severe form.

Increasing awareness of MMA, combined with the improvements in newborn screening programs, is one of the major drivers of the market. Detection at an early stage by tandem mass spectrometry-based screening has led to higher rates of diagnosis, facilitating early intervention and better patient outcomes. Moreover, increased genetic testing services are facilitating more identification of underlying gene mutations, facilitating personalized therapeutic modalities. The establishment of new therapies, such as enzyme replacement therapy, gene therapy, and mRNA-based therapies, is revolutionizing the treatment of MMA to a great extent. Attempts are being made to correct the metabolic defect at the molecular level, which could provide curative possibilities for patients. Liver and kidney transplantation, which aids in the recovery of enzyme activity and minimization of metabolic crises, is being explored as a potential therapeutic intervention in severe cases. In addition, dietary management using specialized low-protein diets and carnitine supplementation continues to be a mainstay of MMA treatment, avoiding metabolic decompensation. Growing investments in orphan drug development and regulatory incentives favoring rare disease treatments are driving innovation in the MMA market. The increasing number of clinical trials assessing small-molecule therapies intended to circumvent the metabolic block is further widening treatment options. With healthcare systems focusing on early diagnosis and intervention, the MMA market is likely to see significant growth over the forecast period.

IMARC Group's new report provides an exhaustive analysis of the methylmalonic acidemia market in the United States, EU4 (Germany, Spain, Italy, and France), United Kingdom, and Japan. This includes treatment practices, in-market, and pipeline drugs, share of individual therapies, market performance across the seven major markets, market performance of key companies and their drugs, etc. The report also provides the current and future patient pool across the seven major markets. Furthermore, the current treatment practice/algorithm, market drivers, challenges, opportunities, reimbursement scenario, unmet medical needs, etc., have also been provided in the report. This report is a must-read for manufacturers, investors, business strategists, researchers, consultants, and all those who have any kind of stake or are planning to foray into the methylmalonic acidemia market in any manner.

Recent Developments:

• In June 2024, Moderna's mRNA-3705 joined the FDA's START program to expedite its development for MMA by repairing defective proteins, with pivotal trials to start in 2024.

Key Highlights:

• MMA affects approximately 1 in 80,000 to 160,000 newborns in the U.S., with cases varying based on genetic factors and population screening programs.
• MMA is an autosomal recessive disorder requiring two mutated genes, leading to metabolic dysfunction due to enzyme deficiencies in protein and fat processing.
• Common symptoms include vomiting, lethargy, muscle weakness, and developmental delays. Severe cases can result in metabolic crises, coma, or life-threatening complications if untreated.
• Newborn screening detects elevated methylmalonic acid levels. Confirmatory tests, including genetic analysis, help identify mutations and guide early intervention strategies.
• Management includes dietary protein restrictions, vitamin B12 supplementation, and, in severe cases, liver or kidney transplantation to improve metabolic stability and prevent complications.

Drugs:

Carbaglu (carglumic acid) by Orphan Europe is designed to manage hyperammonemia in methylmalonic acidemia (MMA). It enhances ammonia detoxification by activating carbamoyl phosphate synthetase 1, aiding urea cycle function. This treatment helps regulate ammonia levels, reducing metabolic complications associated with MMA.

mRNA-3705 by Moderna Therapeutics is an experimental mRNA therapy targeting methylmalonic acidemia (MMA). It is designed to enhance methylmalonyl-CoA mutase (MUT) enzyme activity, potentially reducing harmful metabolite buildup. Currently in clinical evaluation, mRNA-3705 represents a novel approach to addressing MMA caused by MUT mutations.

Time Period of the Study

• Base Year: 2024
• Historical Period: 2019-2024
• Market Forecast: 2025-2035

Countries Covered

• United States
• Germany
• France
• United Kingdom
• Italy
• Spain
• Japan

Analysis Covered Across Each Country

• Historical, current, and future epidemiology scenario
• Historical, current, and future performance of the methylmalonic acidemia market
• Historical, current, and future performance of various therapeutic categories in the market
• Sales of various drugs across the methylmalonic acidemia market
• Reimbursement scenario in the market
• In-market and pipeline drugs

Competitive Landscape:

This report also provides a detailed analysis of the current methylmalonic acidemia marketed drugs and late-stage pipeline drugs.

In-Market Drugs

• Drug Overview
• Mechanism of Action
• Regulatory Status
• Clinical Trial Results
• Drug Uptake and Market Performance

Late-Stage Pipeline Drugs

• Drug Overview
• Mechanism of Action
• Regulatory Status
• Clinical Trial Results
• Drug Uptake and Market Performance

*Kindly note that the drugs in the above table only represent a partial list of marketed/pipeline drugs, and the complete list has been provided in the report.

Key Questions Answered in this Report:

Market Insights

• How has the methylmalonic acidemia market performed so far and how will it perform in the coming years?
• What are the markets shares of various therapeutic segments in 2024 and how are they expected to perform till 2035?
• What was the country-wise size of the methylmalonic acidemia market across the seven major markets in 2024 and what will it look like in 2035?
• What is the growth rate of the methylmalonic acidemia market across the seven major markets and what will be the expected growth over the next ten years?
• What are the key unmet needs in the market?

Epidemiology Insights

• What is the number of prevalent cases (​2019-2035​) of methylmalonic acidemia across the seven major markets?
• What is the number of prevalent cases 2019-2035​) of methylmalonic acidemia by age across the seven major markets?
• What is the number of prevalent cases (2019-2035​) of methylmalonic acidemia by gender across the seven major markets?
• How many patients are diagnosed (​2019-2035​) with methylmalonic acidemia across the seven major markets?
• What is the size of the methylmalonic acidemia patient pool (2019-2024) across the seven major markets?
• What would be the forecasted patient pool (2025-2035) across the seven major markets?
• What are the key factors driving the epidemiological trend of methylmalonic acidemia?
• What will be the growth rate of patients across the seven major markets?

Methylmalonic Acidemia: Current Treatment Scenario, Marketed Drugs and Emerging Therapies

• What are the current marketed drugs and what are their market performance?
• What are the key pipeline drugs and how are they expected to perform in the coming years?
• How safe are the current marketed drugs and what are their efficacies?
• How safe are the late-stage pipeline drugs and what are their efficacies?
• What are the current treatment guidelines for methylmalonic acidemia drugs across the seven major markets?
• Who are the key companies in the market and what are their market shares?
• What are the key mergers and acquisitions, licensing activities, collaborations, etc. related to the methylmalonic acidemia market?
• What are the key regulatory events related to the methylmalonic acidemia market?
• What is the structure of clinical trial landscape by status related to the methylmalonic acidemia market?
• What is the structure of clinical trial landscape by phase related to the methylmalonic acidemia market?
• What is the structure of clinical trial landscape by route of administration related to the methylmalonic acidemia market?