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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.
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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.
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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.
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.

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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.
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.
*While we strive to always give you current and accurate information, the numbers depicted on the website are indicative and may differ from the actual numbers in the main report. At Expert Market Research, we aim to bring you the latest insights and trends in the market. Using our analyses and forecasts, stakeholders can understand the market dynamics, navigate challenges, and capitalize on opportunities to make data-driven strategic decisions.*
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Base Year |
2025 |
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Historical Period |
2019-2025 |
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Forecast Period |
2026-2035 |
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Epidemiology Statistics Provided |
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