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Report Overview

Methylmalonic acidemia remains a rare U.S. metabolic disorder, affecting an estimated 1 in 50,000-100,000 newborns, with subtype-specific burdens still unclear, underscoring the need for improved detection and epidemiological clarity. According to methylmalonic acidemia (MMA) epidemiology forecast by Expert Market Research indicates that although MMA is fundamentally a genetic disease, the appearance of the disorder within clinical populations follows characteristic patterns of age and severity. The most severe forms, particularly those caused by complete deficiency of methylmalonyl-CoA mutase, known as the mut⁰ subtype, tend to present in the first days or weeks of life.

2025

Base Year

2019-2025

Historical Period

2026-2035

Forecast Period

Methylmalonic Acidemia (MMA) – Number of Cases by Year

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Methylmalonic Acidemia (MMA) Epidemiology Forecast Report Coverage

Expert Market Research's “Methylmalonic Acidemia (MMA) Epidemiology Forecast Report 2026-2035” offers comprehensive information on the prevalence and demographics of methylmalonic acidemia (MMA). It projects the future incidence and prevalence rates of methylmalonic acidemia (MMA) cases across various populations. The study covers age, gender, and type as major determinants of the methylmalonic acidemia (MMA) population. The report highlights patterns in the prevalence of methylmalonic acidemia (MMA) over time and projects future trends based on multiple variables.

The report provides a comprehensive overview of the disease, as well as historical and projected data on methylmalonic acidemia (MMA) a epidemiology in the 8 major markets.

Regions Covered

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

Methylmalonic Acidemia (MMA) Understanding: Disease Overview

Methylmalonic acidemia is a rare inherited metabolic disorder caused by defects in methylmalonyl-CoA mutase or its cofactors, leading to toxic accumulation of methylmalonic acid. Onset may occur in infancy with vomiting, lethargy, metabolic acidosis, failure to thrive, and neurologic impairment. Genetic subtypes include MUT, cblA, cblB, and others, each with variable severity. Recurrent metabolic crises, renal dysfunction, and long-term neurologic complications are common. Early detection through newborn screening improves outcomes, yet morbidity remains substantial. Lifelong metabolic management is essential to prevent decompensation.

Methylmalonic Acidemia (MMA) Epidemiology Perspective

The methylmalonic acidemia (MMA) epidemiology division offers information on the patient pool from history to the present, as well as the projected trend for each of the 8 major markets. Expert Market Research provides both current and predicted trends for the methylmalonic acidemia (MMA) epidemiology scenario by examining a wide range of studies. Additionally, the report covers the diagnosed patient pool for methylmalonic acidemia (MMA) and its trends. The methylmalonic acidemia (MMA) detailed epidemiology segmentation is broken down into specific categories, such as total prevalent cases in males and females, and total diagnosed cases across different age groups and patient pools.

  • The incidence of methylmalonic acidemia (MMA) is broadly estimated between 1 in 50,000 and 1 in 100,000 live births, though true global rates remain uncertain due to limited newborn screening coverage and regional diagnostic variability.
  • A large multicenter assessment reported that MMA detection rates remain low, below 2 cases per 100,000 newborns, across North America, Europe, and Asia-Pacific, reflecting both the rarity of the disorder and heterogeneous screening practices worldwide.
  • Methylmalonic acidemia presents across a broad age range, from the neonatal period to adolescence and adulthood, with severe enzyme-deficiency types typically manifesting in infancy, and late-onset forms appearing in childhood or later.
  • The introduction of newborn screening has had the most profound impact on our understanding of MMA’s true distribution. Before widespread screening, epidemiologic data largely reflected only those infants who became severely ill and were diagnosed in tertiary medical centers. Today, screening programs detect asymptomatic newborns, revealing a broader spectrum of disease, including mild, late-onset, or previously silent cases.
  • Among reported cohorts, the gender distribution is approximately equal, with males and females affected in nearly similar proportions across populations, and no consistent global sex bias is observed.

Methylmalonic Acidemia (MMA) – Number of Cases by Country

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Country-wise Methylmalonic Acidemia (MMA) Epidemiology Segment

The methylmalonic acidemia (MMA) epidemiology data and findings for the United States, Germany, Spain, Italy, France, the United Kingdom, Japan, and India are also provided in the epidemiology section.

The burden of methylmalonic acidemia (MMA) in the United States remains difficult to quantify precisely, yet available figures offer a useful perspective. MMA is estimated to affect one out of every 50,000 to 100,000 newborns, underscoring its rarity within the national population. Among its subtypes, MMA caused by cobalamin disorders A and B represents only one form, and the exact number of individuals affected by these specific variants remains unknown. Despite limited precision in nationwide estimates, ongoing newborn screening enhances early identification and strengthens the country’s epidemiological understanding.

Methylmalonic Acidemia (MMA): Treatment Overview

Treatment for methylmalonic acidemia aims to reduce toxic metabolite accumulation and prevent metabolic crises. Management includes low-protein, precursor-restricted diets, carnitine supplementation, and hydroxocobalamin for responsive cblA or cblB forms. Acute episodes require intravenous fluids, dextrose, and ammonia-lowering agents. Long-term complications, including renal dysfunction, may necessitate dialysis or kidney transplantation, and combined liver–kidney transplantation is considered for severe cases to stabilize metabolism. Emerging therapies, including gene therapy and enzyme replacement approaches, are being investigated. Lifelong multidisciplinary care remains crucial for improved survival and quality of life.

Key Questions Answered

  • What are the key findings of methylmalonic acidemia (MMA) epidemiology in the 8 major markets?
  • What will be the total number of patients with methylmalonic acidemia (MMA) across the 8 major markets during the forecast period?
  • What was the country-wise methylmalonic acidemia (MMA) epidemiology scenario in the 8 major markets in the historical period?
  • Which country will have the highest number of cases of methylmalonic acidemia (MMA) during the forecast period of 2026-2035?
  • Which key factors would influence the shift in the patient population of methylmalonic acidemia (MMA) during the forecast period of 2026-2035?
  • What are the currently available treatments for methylmalonic acidemia (MMA)?
  • What are the disease risks, signs, symptoms, and unmet needs of methylmalonic acidemia (MMA)?

Scope of the Methylmalonic Acidemia (MMA) Epidemiology Report

  • The report covers a detailed analysis of signs and symptoms, causes, risk factors, pathophysiology, diagnosis, treatment options, and classification/types of methylmalonic acidemia (MMA) based on several factors.
  • Methylmalonic Acidemia (MMA) Epidemiology Forecast Report covers data for the eight major markets (the US, France, Germany, Italy, Spain, the UK, Japan, and India).
  • The methylmalonic acidemia (MMA) report helps to identify the patient population, and the unmet needs are highlighted along with an assessment of the disease's risk and burden.

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Please note that the figures mentioned in the description serve as estimates and may vary from the actual figures presented in the final report.

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Base Year 

2025

Historical Period

2019-2025

Forecast Period

2026-2035

Epidemiology Statistics Provided

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  • Type-Specific Cases
  • Gender-Specific Cases
  • Age-Specific Cases

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  • Epidemiology by Age Group
  • Epidemiology by Gender
  • Epidemiology by Type of Disease
  • Epidemiology by Region

Geographies Covered 

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

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