Methylmalonic acidemia
ICD-10 E71.120 is a billable code used to indicate a diagnosis of methylmalonic acidemia.
Methylmalonic acidemia (MMA) is a rare inherited metabolic disorder characterized by the body's inability to properly break down certain fats and proteins due to a deficiency of the enzyme methylmalonyl-CoA mutase. This enzyme is crucial for the metabolism of branched-chain amino acids and certain other compounds. The accumulation of methylmalonic acid in the blood can lead to a variety of symptoms, including metabolic acidosis, developmental delays, failure to thrive, and neurological issues. Patients may present with vomiting, lethargy, and seizures, particularly during periods of stress or illness. Diagnosis is typically confirmed through biochemical testing that reveals elevated levels of methylmalonic acid in urine and plasma. Genetic testing can identify mutations in the MMUT gene responsible for the enzyme deficiency. Management of MMA often involves dietary restrictions to limit protein intake, supplementation with vitamin B12 (in cases of cobalamin-responsive MMA), and in severe cases, liver transplantation may be considered. Early diagnosis and intervention are critical to prevent severe complications and improve outcomes.
Detailed growth and developmental assessments, metabolic screening results.
Infants presenting with failure to thrive or metabolic crises.
Ensure documentation reflects the urgency of metabolic management.
Genetic testing results, family history of metabolic disorders.
Patients with a family history of MMA or related metabolic disorders.
Accurate coding requires clear documentation of genetic findings.
Used when confirming a diagnosis of MMA through genetic testing.
Document the reason for testing and results.
Genetic specialists should ensure thorough documentation of family history.
Methylmalonic acidemia is primarily caused by a deficiency in the enzyme methylmalonyl-CoA mutase, often due to genetic mutations.
