What is Methylmalonic acidemia

Methylmalonic acidemia (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 essential for metabolizing certain amino acids and fats.

Individuals with MMA experience a buildup of toxic substances, including methylmalonic acid, in their blood and tissues. This can lead to a wide range of symptoms, such as poor feeding, vomiting, lethargy, developmental delays, low muscle tone, and even life-threatening complications like metabolic crises.

Early diagnosis and management are crucial for individuals with MMA. Treatment typically involves a combination of dietary modifications, vitamin supplements, and medications to help manage symptoms and prevent metabolic crises. In some cases, organ transplantation may be necessary.

Living with MMA can be challenging, but with proper medical care and support, individuals with this condition can lead fulfilling lives. Ongoing monitoring and regular follow-ups with healthcare professionals are essential to ensure optimal management and prevent complications.