How do I know if I have Methylmalonic acidemia?

Methylmalonic acidemia (MMA) is a rare genetic disorder that affects the body's ability to break down certain proteins and fats. It 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. Without this enzyme, methylmalonyl-CoA builds up in the body and leads to the accumulation of toxic substances.

There are several signs and symptoms that may indicate the presence of methylmalonic acidemia. However, it is important to note that these symptoms can vary widely among individuals and may not be present in all cases. Some common signs to look out for include:

• Developmental delays: Children with MMA may experience delays in reaching developmental milestones such as sitting, crawling, or walking.


• Poor feeding: Infants with MMA may have difficulty feeding, experience vomiting, or have a poor appetite.


• Failure to thrive: Due to the body's inability to properly break down nutrients, individuals with MMA may have difficulty gaining weight and growing at a normal rate.


• Enlarged liver and spleen: Some individuals with MMA may develop hepatomegaly (enlarged liver) or splenomegaly (enlarged spleen).


• Metabolic crises: Periods of metabolic crisis can occur in individuals with MMA, characterized by symptoms such as lethargy, dehydration, vomiting, and rapid breathing.


• Neurological symptoms: MMA can also affect the nervous system, leading to symptoms such as muscle weakness, seizures, and intellectual disability.

If you suspect that you or your child may have methylmalonic acidemia, it is crucial to consult with a healthcare professional for a proper diagnosis. The diagnosis of MMA typically involves a combination of clinical evaluation, blood tests, and genetic testing. Blood tests can measure the levels of methylmalonic acid and other substances in the body, while genetic testing can identify specific mutations in the genes associated with MMA.

Early diagnosis and treatment are essential in managing methylmalonic acidemia. While there is no cure for the condition, treatment aims to minimize symptoms and prevent complications. This often involves a specialized diet low in certain proteins and fats, as well as the use of specific supplements and medications to help the body metabolize nutrients more effectively.

It is important to remember that only a healthcare professional can provide an accurate diagnosis of methylmalonic acidemia based on individual symptoms and test results. If you suspect any signs or symptoms of MMA, it is recommended to seek medical advice promptly.