Disorders of amino-acid transport, unspecified
ICD-10 E72.00 is a billable code used to indicate a diagnosis of disorders of amino-acid transport, unspecified.
Disorders of amino-acid transport encompass a range of metabolic conditions characterized by the impaired transport of amino acids across cell membranes. These disorders can lead to an accumulation of certain amino acids in the blood and tissues, resulting in various clinical manifestations. The unspecified nature of this code indicates that the specific amino acid transport disorder has not been clearly identified or documented. Commonly associated conditions include cystinuria, which leads to the accumulation of cystine, and Hartnup disorder, which affects the transport of neutral amino acids. Symptoms may vary widely, including failure to thrive, neurological deficits, and renal complications. 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 to limit the intake of specific amino acids and supplementation of others to prevent deficiency. Given the complexity of amino acid metabolism, these disorders require careful monitoring and a multidisciplinary approach to treatment.
Detailed growth and developmental assessments, dietary history, and metabolic screening results.
Infants presenting with failure to thrive or developmental delays.
Consideration of family history of metabolic disorders and genetic counseling.
Genetic testing results, family pedigree, and detailed clinical history.
Patients with a family history of metabolic disorders undergoing evaluation.
Documentation of genetic counseling and implications for family members.
Used when evaluating patients for amino acid transport disorders.
Document the reason for testing and results.
Pediatric specialists may require additional growth assessments.
Document all clinical symptoms, biochemical test results, and any dietary management strategies. Ensure that the rationale for using the unspecified code is clear.
