Disorder of amino-acid metabolism, unspecified
ICD-10 E72.9 is a billable code used to indicate a diagnosis of disorder of amino-acid metabolism, unspecified.
Disorders of amino acid metabolism encompass a range of genetic and acquired conditions that disrupt the normal processing of amino acids, which are vital for protein synthesis and various metabolic pathways. These disorders can arise from enzyme deficiencies that hinder the conversion of amino acids into necessary compounds or the removal of toxic byproducts. Common examples include phenylketonuria (PKU), maple syrup urine disease, and homocystinuria, each resulting from specific enzyme deficiencies. Symptoms may vary widely, including developmental delays, neurological issues, and metabolic crises. Diagnosis typically involves biochemical testing to measure amino acid levels in blood and urine, alongside genetic testing to identify specific mutations. Given the complexity of amino acid metabolism and the potential for overlapping symptoms with other metabolic disorders, accurate diagnosis and coding are crucial for effective management and treatment planning.
Detailed family history and genetic testing results.
Patients presenting with developmental delays or metabolic crises.
Ensure genetic testing results are included to support diagnosis.
Growth charts and developmental assessments.
Infants with failure to thrive or unusual metabolic symptoms.
Documenting the onset of symptoms and any dietary interventions.
Used to confirm diagnosis of amino acid metabolism disorders.
Document the reason for testing and results.
Genetics specialists should ensure comprehensive metabolic panels are included.
E72.9 should be used when there is a disorder of amino acid metabolism that is not specified. It is important to document any biochemical tests or clinical findings that support this diagnosis.
