Disorder of branched-chain amino-acid metabolism, unspecified
ICD-10 E71.2 is a billable code used to indicate a diagnosis of disorder of branched-chain amino-acid metabolism, unspecified.
Disorders of branched-chain amino acid (BCAA) metabolism are a group of inherited metabolic conditions characterized by the body's inability to properly metabolize certain amino acids, specifically leucine, isoleucine, and valine. These amino acids are essential for protein synthesis and energy production. The most common disorders in this category include Maple Syrup Urine Disease (MSUD), which results from deficiencies in the branched-chain alpha-keto acid dehydrogenase complex. Symptoms can range from mild to severe and may include poor feeding, vomiting, lethargy, developmental delays, and in severe cases, neurological damage. Diagnosis typically involves biochemical testing to measure levels of BCAAs and their corresponding metabolites in blood and urine. Management often requires dietary modifications to limit BCAA intake and supplementation with other amino acids to prevent metabolic crises. The unspecified nature of this code indicates that the specific type of disorder has not been determined, which can complicate treatment and management strategies.
Detailed family history, genetic testing results, and metabolic assessments.
Patients presenting with developmental delays or metabolic crises.
Ensure genetic counseling is documented, especially for family planning.
Growth charts, dietary logs, and metabolic monitoring results.
Infants with poor feeding and lethargy requiring metabolic evaluation.
Document any referrals to dietitians for nutritional management.
Used when genetic testing is performed to confirm a diagnosis of a BCAA disorder.
Document the specific tests performed and the clinical rationale for testing.
Genetic specialists should ensure comprehensive family history is included.
Common symptoms include poor feeding, vomiting, lethargy, developmental delays, and neurological issues. Symptoms can vary widely based on the severity of the disorder.
