Other disorders of amino-acid transport
ICD-10 E72.09 is a billable code used to indicate a diagnosis of other disorders of amino-acid transport.
E72.09 refers to a group of metabolic disorders characterized by the impaired transport of amino acids across cell membranes. These disorders can result from genetic mutations affecting specific transport proteins, leading to abnormal levels of amino acids in the blood and tissues. Clinical manifestations vary widely, including developmental delays, neurological deficits, and metabolic crises. Conditions such as cystinuria, which involves defective cystine transport, and Hartnup disorder, characterized by impaired neutral amino acid transport, fall under this category. Diagnosis typically involves biochemical testing to measure amino acid levels in plasma and urine, alongside genetic testing to identify mutations. Management may include dietary modifications, supplementation, and symptomatic treatment to mitigate complications arising from amino acid imbalances. Early detection and intervention are crucial to prevent long-term sequelae associated with these disorders.
Detailed family history and genetic testing results must be documented.
Patients presenting with unexplained developmental delays or metabolic crises.
Ensure accurate coding based on genetic findings and biochemical test results.
Growth charts, developmental assessments, and dietary history are essential.
Infants or children with failure to thrive or neurological symptoms.
Document any referrals to specialists for comprehensive management.
Used when evaluating a patient suspected of having an amino acid transport disorder.
Document the clinical rationale for the test and any relevant patient history.
Genetics specialists should ensure that the test results are interpreted in the context of the patient's overall clinical picture.
Symptoms can vary widely but may include developmental delays, neurological issues, metabolic crises, and failure to thrive in infants.
Diagnosis typically involves biochemical testing to measure amino acid levels in blood and urine, along with genetic testing to identify specific mutations.
