Disorders of urea cycle metabolism
ICD-10 E72.2 is a billable code used to indicate a diagnosis of disorders of urea cycle metabolism.
Disorders of urea cycle metabolism encompass a group of inherited metabolic disorders 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 lead to the accumulation of ammonia and other toxic metabolites in the bloodstream, which can cause severe neurological damage 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, which presents with symptoms such as vomiting, lethargy, seizures, and in severe cases, coma. Diagnosis typically involves biochemical testing to measure ammonia levels and genetic testing to identify specific enzyme deficiencies. Management strategies may include dietary modifications, ammonia scavenger medications, and in some cases, liver transplantation. Early diagnosis and intervention are crucial to prevent irreversible neurological damage.
Detailed family history, growth parameters, and developmental milestones.
Newborn screening positive for metabolic disorders, acute hyperammonemic crisis.
Documentation of dietary interventions and metabolic management plans.
Genetic testing results, family pedigree, and counseling notes.
Referral for genetic testing after abnormal metabolic screening.
Accurate coding of genetic conditions and their implications for family members.
Used when genetic confirmation of a urea cycle disorder is needed.
Documentation of clinical suspicion and rationale for testing.
Genetic counseling notes should be included.
Common symptoms include vomiting, lethargy, seizures, and in severe cases, coma due to elevated ammonia levels.
Diagnosis is typically made through biochemical testing to measure ammonia levels and genetic testing to identify specific enzyme deficiencies.
