Branched-chain organic acidurias
ICD-10 E71.11 is a billable code used to indicate a diagnosis of branched-chain organic acidurias.
Branched-chain organic acidurias (BCOAs) are a group of inherited metabolic disorders characterized by the accumulation of branched-chain amino acids (BCAAs) and their corresponding organic acids in the body due to enzyme deficiencies. The most common types include Maple Syrup Urine Disease (MSUD), Isovaleric Acidemia, and 2-Methylbutyric Acidemia. These conditions arise from defects in the branched-chain alpha-keto acid dehydrogenase complex, which is responsible for the catabolism of leucine, isoleucine, and valine. Clinical manifestations can vary widely, ranging from acute metabolic crises in infancy, presenting with poor feeding, vomiting, lethargy, and neurological impairment, to more subtle symptoms in later childhood or adulthood. Diagnosis is typically confirmed through newborn screening, urine organic acid analysis, and plasma amino acid quantification. Early intervention, including dietary management to restrict BCAA intake and supplementation with alternative nutrients, is crucial to prevent severe neurological damage and improve quality of life. Long-term management may involve regular monitoring and adjustments to dietary plans based on metabolic needs.
Detailed history of symptoms, metabolic testing results, and dietary management plans.
Newborn screening positive for BCOAs, acute metabolic crisis in infants.
Ensure documentation reflects the urgency of metabolic crises and ongoing management strategies.
Family history, genetic testing results, and counseling notes.
Referral for genetic counseling after diagnosis, family planning discussions.
Document genetic testing results and implications for family members.
Used to confirm diagnosis of branched-chain organic acidurias.
Document the reason for testing and results.
Ensure that the testing aligns with metabolic disorder protocols.
Common symptoms include poor feeding, vomiting, lethargy, neurological impairment, and metabolic crises, particularly in infants.
