Methylmalonic Acidemia
Methylmalonic Acidemia (MMA) is a rare genetic disorder that affects the body's ability to break down certain proteins and fats. This condition is caused by a deficiency of an enzyme called methylmalonyl-CoA mutase, which is essential for processing specific amino acids and fats. As a result, toxic levels of methylmalonic acid can build up in the body, leading to various health issues.
Symptoms of MMA can vary but often include vomiting, dehydration, developmental delays, and metabolic crises. Early diagnosis through newborn screening is crucial for managing the condition, which may involve dietary changes, vitamin B12 supplementation, and in some cases, liver transplantation to improve outcomes.