Other disorders of urea cycle metabolism
ICD-10 E72.29 is a billable code used to indicate a diagnosis of other disorders of urea cycle metabolism.
Disorders of urea cycle metabolism encompass a range of genetic metabolic conditions characterized by deficiencies in enzymes responsible for the conversion of ammonia to urea. These disorders lead to the accumulation of ammonia in the bloodstream, which can result in severe neurological impairment and other systemic complications. The urea cycle involves several key enzymes, including carbamoyl phosphate synthetase I, ornithine transcarbamylase, argininosuccinate synthetase, and argininosuccinate lyase. Deficiencies in these enzymes can lead to hyperammonemia, presenting with symptoms such as lethargy, vomiting, seizures, and in severe cases, coma. While some urea cycle disorders are well-defined, E72.29 captures other less common or atypical presentations that do not fit neatly into established categories. Diagnosis typically involves biochemical testing to measure enzyme activity and genetic testing to identify mutations. Management strategies may include dietary modifications, ammonia scavengers, and in some cases, liver transplantation. Early diagnosis and intervention are crucial to prevent irreversible neurological damage.
Detailed family history, genetic testing results, and enzyme activity levels.
Patients presenting with unexplained hyperammonemia or neurological symptoms.
Ensure genetic counseling documentation is included for familial implications.
Growth and developmental assessments, dietary history, and metabolic workup results.
Infants or children with acute metabolic crises or developmental delays.
Document any acute interventions and long-term management plans.
Used when genetic testing is performed to confirm a diagnosis of a urea cycle disorder.
Document the reason for testing, results, and any follow-up actions.
Genetic specialists should ensure comprehensive family history is included.
Common symptoms include lethargy, vomiting, seizures, and in severe cases, coma due to elevated ammonia levels.
Diagnosis typically involves biochemical tests to measure ammonia levels and enzyme activity, along with genetic testing to identify specific mutations.
