MMUT (Methylmalonyl-CoA mutase): MMUT is a critical enzyme involved in the metabolism of branched-chain amino acids and fatty acids. Specifically, MMUT catalyzes the conversion of methylmalonyl-CoA to succinyl-CoA, an essential step in the breakdown of certain amino acids and lipids for energy production. This process occurs within the mitochondria, where MMUT helps maintain cellular energy balance and provides substrates for the citric acid cycle. Deficiencies in MMUT activity, often due to mutations in the MMUT gene, can lead to methylmalonic acidemia (MMA), a rare inherited metabolic disorder characterized by the accumulation of methylmalonic acid and its metabolites in the body. MMA can manifest with symptoms such as developmental delays, neurological abnormalities, metabolic acidosis, and organ dysfunction. The severity and presentation of MMA can vary widely, ranging from mild to life-threatening forms. Management of MMA typically involves dietary restrictions, supplementation with specific nutrients, and in severe cases, organ transplantation. Understanding the molecular mechanisms underlying MMUT function and the pathophysiology of MMA is crucial for developing effective diagnostic methods and therapeutic strategies to improve outcomes for individuals affected by this disorder. Ongoing research into MMUT and MMA holds promise for the development of targeted therapies aimed at correcting or mitigating the metabolic defects associated with MMUT deficiency.


Test(s) that measure/test for MMUT

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