Disorder of urea cycle metabolism, unspecified
ICD-10 E72.20 is a billable code used to indicate a diagnosis of disorder of urea cycle metabolism, unspecified.
Disorders of urea cycle metabolism encompass a group of inherited metabolic conditions that result from deficiencies in one of the enzymes responsible for the urea cycle, a critical pathway for the detoxification of ammonia in the body. These disorders can lead to the accumulation of ammonia in the bloodstream, which can be toxic and result in severe neurological damage if not promptly treated. The urea cycle involves several key enzymes, including carbamoyl phosphate synthetase I, ornithine transcarbamylase, argininosuccinate synthetase, and argininosuccinate lyase. Symptoms of urea cycle disorders can vary widely, ranging from mild to severe, and may include lethargy, vomiting, seizures, and in severe cases, coma. Diagnosis typically involves biochemical testing to measure enzyme activity and genetic testing to identify specific mutations. Management often includes dietary modifications, ammonia scavenger medications, and in some cases, liver transplantation. The unspecified designation indicates that the specific enzyme deficiency has not been determined, which can complicate treatment and management strategies.
Detailed family history and genetic testing results must be documented.
Patients presenting with unexplained neurological symptoms or metabolic crises.
Genetic counseling may be necessary for family planning and understanding inheritance patterns.
Growth and developmental assessments, along with dietary intake records.
Infants or children with failure to thrive or recurrent vomiting.
Monitoring for developmental delays and nutritional status is crucial.
Used when genetic testing is performed to confirm a suspected urea cycle disorder.
Documentation of clinical indications for testing and results.
Genetic counseling may be required for interpretation of results.
Document the patient's clinical symptoms, any biochemical testing results, and the rationale for using the unspecified code, including the absence of specific enzyme identification.
