Other disorders of branched-chain amino-acid metabolism
ICD-10 E71.1 is a billable code used to indicate a diagnosis of other disorders of branched-chain amino-acid metabolism.
E71.1 refers to a group of metabolic disorders characterized by the impaired metabolism of branched-chain amino acids (BCAAs), which include leucine, isoleucine, and valine. These disorders are often due to deficiencies in specific enzymes responsible for the catabolism of these amino acids, leading to their accumulation in the body. The most common conditions under this category include Maple Syrup Urine Disease (MSUD), which is caused by a deficiency in the branched-chain alpha-keto acid dehydrogenase complex. Symptoms can range from poor feeding, vomiting, and lethargy in infants to neurological impairment and developmental delays if left untreated. Diagnosis typically involves biochemical testing to measure the levels of BCAAs and their corresponding keto acids in blood and urine. Management may include dietary restrictions to limit BCAA intake and supplementation with other amino acids. Early detection and treatment are crucial to prevent severe complications, including metabolic crises and long-term neurological damage.
Genetic testing results, family history of metabolic disorders, and clinical evaluations.
Patients presenting with developmental delays, metabolic crises, or unexplained neurological symptoms.
Ensure comprehensive documentation of genetic counseling and testing outcomes.
Growth charts, dietary assessments, and metabolic screening results.
Infants with poor feeding, lethargy, or abnormal urine odor.
Document any dietary interventions and follow-up assessments to monitor growth and development.
Used when confirming a diagnosis of a branched-chain amino acid metabolism disorder.
Document the clinical rationale for testing and results.
Genetic counseling may be required before and after testing.
Common symptoms include poor feeding, vomiting, lethargy, developmental delays, and neurological impairment. Symptoms can vary based on the specific disorder and the age of onset.
