Arginosuccinic aciduria
ICD-10 E72.22 is a billable code used to indicate a diagnosis of arginosuccinic aciduria.
Arginosuccinic aciduria is a rare inherited metabolic disorder caused by a deficiency of the enzyme arginosuccinate lyase, which is crucial for the urea cycle. This condition leads to the accumulation of arginosuccinic acid and other toxic metabolites in the body, resulting in a range of clinical symptoms. Patients may present with developmental delays, neurological deficits, and episodes of hyperammonemia, which can lead to severe complications if not managed promptly. The disorder is typically diagnosed through biochemical testing that reveals elevated levels of arginosuccinic acid in urine and plasma. Genetic testing can confirm mutations in the ASL gene responsible for the enzyme deficiency. Management of arginosuccinic aciduria often involves dietary modifications to limit protein intake, supplementation with arginine, and in some cases, ammonia scavenger medications to reduce hyperammonemia. Early diagnosis and intervention are critical to improving outcomes and preventing irreversible neurological damage.
Detailed family history and genetic testing results.
Evaluation of patients with suspected metabolic disorders.
Ensure accurate documentation of genetic mutations and inheritance patterns.
Growth and developmental assessments, dietary history.
Management of infants and children with metabolic disorders.
Monitor for developmental milestones and nutritional status.
Used when confirming a diagnosis of arginosuccinic aciduria.
Document the clinical rationale for genetic testing.
Genetic counseling may be necessary for family planning.
Common symptoms include developmental delays, neurological deficits, vomiting, lethargy, and episodes of hyperammonemia.
Diagnosis is typically made through biochemical testing showing elevated arginosuccinic acid levels and confirmed by genetic testing for mutations in the ASL gene.
