What is methylmalon?

ic acidemia (MMA)

Methylmalonic acidemia (MMA) is a rare genetic disorder that affects the body's ability to break down certain amino acids and fatty acids. It is caused by insufficient levels of an enzyme called methylmalonyl-CoA mutase (MCM), which is needed for the breakdown of these substances.

Symptoms of MMA can vary widely, but often include developmental delays, seizures, lethargy, vomiting, dehydration, and coma. The disorder can lead to complications such as kidney failure, liver disease, and neurological damage.

There is currently no cure for MMA, but treatment typically focuses on managing symptoms. This may involve a special diet low in certain amino acids and high in others, as well as vitamin B12 supplements and other medications.

Early diagnosis and treatment are important for preventing complications and improving outcomes in individuals with MMA. Genetic testing and counseling may also be recommended to help identify carriers of the disorder and reduce the risk of passing it on to future generations.