Argininemia
ICD-10 E72.21 is a billable code used to indicate a diagnosis of argininemia.
Argininemia is a rare genetic metabolic disorder characterized by a deficiency of the enzyme arginase, which is crucial for the urea cycle. This enzyme deficiency leads to the accumulation of arginine and other metabolites in the blood, resulting in hyperargininemia. Clinically, patients may present with a range of symptoms including developmental delays, intellectual disability, spasticity, seizures, and other neurological manifestations. The condition is inherited in an autosomal recessive pattern, meaning that both copies of the gene must be mutated for the disorder to manifest. Diagnosis is typically confirmed through biochemical testing that reveals elevated levels of arginine in the plasma and may also involve genetic testing to identify mutations in the ARG1 gene. Management of argininemia focuses on dietary restrictions to limit arginine intake and may include the use of medications to help manage symptoms. Early diagnosis and intervention are critical to improving outcomes and quality of life for affected individuals.
Detailed family history and genetic testing results.
Patients presenting with developmental delays and metabolic abnormalities.
Ensure genetic counseling notes are included in documentation.
Growth and developmental assessments, neurological evaluations.
Infants or children with unexplained neurological symptoms.
Document any dietary interventions and their effects on the patient.
Used when confirming a diagnosis of argininemia.
Document the reason for testing and results.
Genetic specialists should ensure comprehensive family history is included.
Primary symptoms include developmental delays, intellectual disability, seizures, and spasticity. Symptoms can vary widely among individuals.
