Other specified disorders of amino-acid metabolism
ICD-10 E72.89 is a billable code used to indicate a diagnosis of other specified disorders of amino-acid metabolism.
E72.89 encompasses a variety of metabolic disorders that involve abnormalities in amino acid metabolism. These disorders can arise from genetic enzyme deficiencies that disrupt the normal breakdown or synthesis of amino acids, leading to an accumulation of toxic metabolites or a deficiency of essential amino acids. Common conditions under this code include disorders such as cystathioninuria, hyperprolinemia, and other rare metabolic conditions that do not fit neatly into more specific categories. Clinically, patients may present with a range of symptoms, including 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 strategies often include dietary modifications, supplementation of deficient amino acids, and in some cases, pharmacological interventions. 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 treatment and management.
Detailed family history, genetic test results, and clinical findings must be documented.
Patients presenting with unexplained developmental delays or metabolic crises.
Genetic counseling may be necessary for families, and documentation should reflect the need for ongoing management.
Growth charts, developmental assessments, and metabolic screening results are essential.
Infants with abnormal newborn screening results indicating potential amino acid disorders.
Close monitoring of dietary intake and growth parameters is critical for accurate management.
Used to confirm the diagnosis of an amino acid metabolism disorder.
Results of the amino acid analysis must be included in the patient's medical record.
Geneticists and metabolic specialists often order this test.
E72.89 includes various rare metabolic disorders related to amino acid metabolism that do not have a specific code, such as cystathioninuria and hyperprolinemia.
