Other disorders of branched-chain amino-acid metabolism
ICD-10 E71.19 is a billable code used to indicate a diagnosis of other disorders of branched-chain amino-acid metabolism.
E71.19 encompasses a variety of metabolic disorders characterized by the abnormal metabolism of branched-chain amino acids (BCAAs), which include leucine, isoleucine, and valine. These amino acids are essential for protein synthesis and energy production. Disorders in this category may arise from enzyme deficiencies, such as branched-chain alpha-keto acid dehydrogenase complex deficiency, leading to the accumulation of toxic metabolites. Symptoms can vary widely, ranging from metabolic crises in infancy to neurological deficits and developmental delays in later life. Diagnosis typically involves biochemical testing to measure amino acid levels in blood and urine, alongside genetic testing to identify specific enzyme deficiencies. Management often includes dietary modifications to restrict BCAA intake and supplementation with other amino acids to prevent complications. Early diagnosis and intervention are crucial to improve outcomes and prevent severe neurological damage.
Genetic testing results, family history, and detailed clinical evaluations.
Patients presenting with developmental delays or metabolic crises.
Ensure accurate documentation of genetic findings and their implications for treatment.
Growth charts, dietary assessments, and metabolic screening results.
Infants with unexplained lethargy or poor feeding.
Documenting the timeline of symptoms and interventions is critical for accurate coding.
Used when a patient is suspected of having a disorder of branched-chain amino acid metabolism.
Documentation of clinical indications for testing and results.
Genetic counseling may be necessary for families.
Common symptoms include poor feeding, lethargy, developmental delays, and neurological issues. Symptoms can vary based on the specific disorder and the age of onset.
