Other disorders of amino-acid metabolism
Chapter 4:Endocrine, nutritional and metabolic diseases
ICD-10 E72 is a billable code used to indicate a diagnosis of other disorders of amino-acid metabolism.
E72 encompasses a variety of metabolic disorders characterized by 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 toxic accumulation or deficiency of essential amino acids. Common conditions under this code include phenylketonuria (PKU), maple syrup urine disease (MSUD), and homocystinuria, among others. Symptoms can vary widely, from neurological deficits and developmental delays to metabolic crises and organ dysfunction. 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, pharmacological interventions to mitigate the effects of the disorder. Early detection and intervention are crucial to prevent severe complications and improve quality of life for affected individuals.
Detailed family history and genetic testing results.
Evaluation of patients with suspected hereditary metabolic disorders.
Ensure accurate coding based on genetic findings and clinical manifestations.
Growth charts, developmental assessments, and dietary logs.
Management of infants with metabolic crises or developmental delays.
Monitor for changes in dietary needs as the child grows.
Used for diagnosing amino acid metabolism disorders.
Include lab results and clinical indications for testing.
Geneticists and metabolic specialists should ensure comprehensive documentation.
Symptoms can vary widely but may include developmental delays, neurological deficits, metabolic crises, and organ dysfunction, depending on the specific disorder.
