Methylmalonic acidemia synonyms
What other names are the Methylmalonic acidemia known by? Synonyms and other terms with which Methylmalonic acidemia is known.
Methylmalonic acidemia, also known as MMA, is a rare genetic disorder characterized by the body's inability to break down certain proteins and fats properly. This condition is caused by a deficiency of an enzyme called methylmalonyl-CoA mutase, which is responsible for converting a substance called methylmalonyl-CoA into succinyl-CoA.
Symptoms: Individuals with methylmalonic acidemia may experience a wide range of symptoms, which can vary in severity. Common symptoms include poor feeding, vomiting, lethargy, developmental delays, failure to thrive, and low muscle tone. As the condition progresses, affected individuals may also develop metabolic crises, which can be life-threatening and manifest as seizures, breathing difficulties, and even coma.
Diagnosis: Methylmalonic acidemia is typically diagnosed through newborn screening programs, where elevated levels of methylmalonic acid are detected in a blood or urine sample. Confirmatory diagnostic tests may include genetic testing to identify mutations in the genes responsible for the condition.
Treatment: There is currently no cure for methylmalonic acidemia, but management strategies aim to minimize symptoms and prevent complications. Treatment often involves a specialized diet low in certain amino acids and high in others, as well as the supplementation of specific vitamins and cofactors. In severe cases, individuals may require emergency medical intervention during metabolic crises.
Prognosis: The long-term outlook for individuals with methylmalonic acidemia varies depending on the severity of the condition and the age at which it is diagnosed. Early detection and intervention can significantly improve outcomes. With appropriate management, some individuals are able to lead relatively normal lives, while others may experience ongoing health challenges and require ongoing medical support.
Research: Ongoing research is focused on understanding the underlying genetic mechanisms of methylmalonic acidemia and developing new treatment approaches. Gene therapy and enzyme replacement therapy are among the potential future treatment options being explored.
