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The effects of methylmalonic acidemia, which usually appear in early infancy, vary from mild to life-threatening. Affected infants can experience vomiting, dehydration, weak muscle tone (hypotonia), developmental delays, excessive tiredness (lethargy), an enlarged liver (hepatomegaly), and failure to gain weight and grow at the expected rate (failure to thrive). Long-term complications can include feeding problems, intellectual disabilities, movement problems, chronic kidney disease, and inflammation of the pancreas (pancreatitis). 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entries. Ancestor membership does not transfer phenotype values between groups.","importantHtml":""},"sections":[{"bodyHtml":"<p>Variants (also called mutations) in the MMUT, MMAA, MMAB, MMADHC, and MCEE genes cause methylmalonic acidemia. The long-term effects of methylmalonic acidemia depend on which gene is altered and the severity of the variant.</p><p>About 60 percent of individuals with methylmalonic acidemia have variants in the MMUT gene. This gene provides instructions for making an enzyme called methylmalonyl-CoA mutase. This enzyme works with vitamin B12 (also called cobalamin) to break down several protein building blocks (amino acids), certain lipids, and cholesterol. Variants in the MMUT gene alter the enzyme&#x27;s structure or reduce the amount of the enzyme, which prevents these molecules from being broken down properly. As a result, a substance called methylmalonic acid and other potentially toxic compounds can accumulate in the body&#x27;s organs and tissues, causing the signs and symptoms of methylmalonic acidemia.</p><p>Variants in the MMUT gene that prevent the production of any functional methylmalonyl-CoA mutase result in a form of the condition designated mut0. Mut0 is the most severe form of methylmalonic acidemia and has the poorest outcomes. Variants that change the structure of methylmalonyl-CoA mutase but do not eliminate its activity cause a form of the condition designated mut-. The mut- form is typically less severe, with more variable symptoms than the mut0 form.</p><p>Some cases of methylmalonic acidemia are caused by variants in the MMAA, MMAB, or MMADHC gene. Proteins produced from the MMAA, MMAB, and MMADHC genes are required for the proper function of methylmalonyl-CoA mutase. Specifically, these proteins help produce and regulate vitamin B12, which methylmalonyl-CoA mutase needs to function. Variants that affect proteins produced from these three genes can impair the activity of methylmalonyl-CoA mutase, leading to methylmalonic acidemia.</p><p>A few other cases of methylmalonic acidemia are caused by variants in the MCEE gene. This gene provides instructions for producing an enzyme called methylmalonyl CoA epimerase. Like methylmalonyl CoA mutase, this enzyme also plays a role in the breakdown of amino acids, certain lipids, and cholesterol. Disruption in the function of methylmalonyl CoA epimerase leads to a form of methylmalonic acidemia with varied signs and symptoms.</p><p>Because variants in these genes only cause elevations in the levels of methylmalonic acid, this condition is sometimes referred to as isolated methylmalonic acidemia. This helps distinguish it from related conditions, such as methylmalonic acidemia with homocystinuria.</p><p>It is possible that variants in other, unidentified genes also cause methylmalonic acidemia.</p><p class=\"section-source\"><a href=\"https://medlineplus.gov/genetics/condition/methylmalonic-acidemia/#causes\">MedlinePlus Genetics: Causes</a></p>","key":"forms","title":"What causes Methylmalonic acidemia?"},{"bodyHtml":"<p class=\"section-source\">Source: <a href=\"https://medlineplus.gov/genetics/condition/methylmalonic-acidemia\">MedlinePlus Genetics</a></p><details class=\"deep-dive\"><summary>Combined malonic and methylmalonic aciduria</summary><p>Combined malonic and methylmalonic aciduria (CMAMMA) is a condition characterized by high levels of certain chemicals, known as malonic acid and methylmalonic acid, in the body. A distinguishing feature of this condition is higher levels of methylmalonic acid than malonic acid in the urine, although both are elevated.</p><p>The signs and symptoms of CMAMMA can begin in childhood. In some children, the buildup of acids causes the blood to become too acidic (ketoacidosis), which can damage the body&#x27;s tissues and organs. Other signs and symptoms may include involuntary muscle tensing (dystonia), weak muscle tone (hypotonia), developmental delay, an inability to grow and gain weight at the expected rate (failure to thrive), low blood glucose (hypoglycemia), and coma. Some affected children have an unusually small head size (microcephaly).</p><p>Other people with CMAMMA do not develop signs and symptoms until adulthood. These individuals usually have neurological problems, such as seizures, loss of memory, a decline in thinking ability, or psychiatric diseases.</p><h3>Causes</h3><p>Mutations in the ACSF3 gene cause CMAMMA. This gene provides instructions for making an enzyme that plays a role in the formation (synthesis) of fatty acids. Fatty acids are building blocks used to make fats (lipids). The ACSF3 enzyme performs a chemical reaction that converts malonic acid to malonyl-CoA, which is the first step of fatty acid synthesis in cellular structures called mitochondria. Based on this activity, the enzyme is classified as a malonyl-CoA synthetase. The ACSF3 enzyme also converts methylmalonic acid to methylmalonyl-CoA, making it a methylmalonyl-CoA synthetase as well.</p><p>The effects of ACSF3 gene mutations are unknown. Researchers suspect that the mutations lead to altered enzymes that have little or no function. Because the enzyme cannot convert malonic and methylmalonic acids, they build up in the body. Damage to organs and tissues caused by accumulation of these acids may be responsible for the signs and symptoms of CMAMMA, although the mechanisms are unclear.</p><p class=\"section-source\"><a href=\"https://medlineplus.gov/genetics/condition/combined-malonic-and-methylmalonic-aciduria/#causes\">MedlinePlus Genetics: Causes</a></p><p class=\"section-source\"><a href=\"https://medlineplus.gov/genetics/condition/combined-malonic-and-methylmalonic-aciduria\">MedlinePlus: Combined malonic and methylmalonic aciduria</a></p></details>","key":"overview","title":"Condition overview"}],"sharedSources":[],"slug":"methylmalonic-acidemia","sourceDocuments":[{"name":"Methylmalonic acidemia","reviewed":"2023-07","sections":{"causes":{"fetchedAt":"2026-10-20T20:23:17.759825+00:00","label":"Causes","pageSha256":"bf49d65af46f3b44f7b980e7bb554a62c765104941ff2ecca44b1b97dbf9412f","sourceUrl":"https://medlineplus.gov/genetics/condition/methylmalonic-acidemia/#causes","status":"available"}},"source_release":"2026-10-01","url":"https://medlineplus.gov/genetics/condition/methylmalonic-acidemia"},{"name":"Combined malonic and methylmalonic aciduria","reviewed":"2013-01","sections":{"causes":{"fetchedAt":"2026-10-20T20:20:28.344127+00:00","label":"Causes","pageSha256":"8443b8453cae9581041e58cc4f559c8667952845861e3dccc98c55481c6b8ddf","sourceUrl":"https://medlineplus.gov/genetics/condition/combined-malonic-and-methylmalonic-aciduria/#causes","status":"available"}},"source_release":"2026-10-01","url":"https://medlineplus.gov/genetics/condition/combined-malonic-and-methylmalonic-aciduria"}],"sourceNote":"MedlinePlus descriptions and Causes; original HPO annotations.","takeawayHtml":"Cause explanations are from MedlinePlus Genetics. Feature values below retain their original sources and patient groups.","title":"Methylmalonic acidemia"},"schemaVersion":1}