Patients with Methylmalonic Acidemia
Individuals living with a rare genetic metabolic disorder characterized by the body's inability to properly break down proteins and fats.
National Organization for Rare Disorders (NORD)Patients with Methylmalonic Acidemia (MMA) have an autosomal recessive disorder of amino acid metabolism. This condition prevents the proper conversion of methylmalonyl-coenzyme A to succinyl-CoA, leading to an abnormal buildup of acid in the blood and body tissues. It affects approximately 1 in 25,000 to 48,000 people.
Symptoms often appear in early infancy, ranging from lethargy and vomiting to severe neurologic manifestations such as seizures, encephalopathy, and stroke. Long-term complications may include intellectual disabilities, chronic kidney disease, pancreatitis, and metabolic brain injury targeting the basal ganglia.
Management currently relies on dietary restrictions and medical foods, though patients may still experience growth, renal, and neurological complications. Because the condition can lead to coma or death without treatment, innovations in diagnosis and therapy are critical for improving long-term prognosis and quality of life.