Other specified disorders of amino-acid metabolism
ICD-10 E72.8 is a billable code used to indicate a diagnosis of other specified disorders of amino-acid metabolism.
E72.8 encompasses a variety of metabolic disorders that affect the metabolism of amino acids, which are the building blocks of proteins. These disorders can arise from genetic enzyme deficiencies that disrupt normal metabolic pathways, leading to the accumulation of toxic metabolites or the deficiency of essential amino acids. Conditions included under this code may involve disorders such as cystathioninuria, hyperprolinemia, and other rare amino acid metabolic disorders that do not fall under more specific classifications. Symptoms can vary widely, ranging from mild to severe, and may include neurological deficits, developmental delays, and metabolic crises. Diagnosis typically involves biochemical testing to measure amino acid levels in blood and urine, alongside genetic testing to identify specific enzyme deficiencies. Management often requires dietary modifications, supplementation, and in some cases, enzyme replacement therapy. Given the complexity of these disorders, a multidisciplinary approach is often necessary for effective treatment and management.
Detailed family history and genetic testing results must be documented.
Patients presenting with unexplained developmental delays or metabolic crises.
Genetic counseling may be necessary for families, and documentation should reflect the multidisciplinary approach.
Growth charts, developmental assessments, and dietary history are crucial.
Infants or children with failure to thrive or unusual metabolic symptoms.
Close monitoring of dietary intake and metabolic status is essential for pediatric patients.
Used to confirm the diagnosis of an amino acid metabolism disorder.
Document the reason for the test and the specific amino acids being analyzed.
Geneticists and metabolic specialists should ensure comprehensive documentation of test results.
E72.8 includes various unspecified disorders of amino acid metabolism, such as cystathioninuria and hyperprolinemia, which do not have their own specific codes.
