pediatrics
Urea Cycle Disorders
Diagnosis ofUreaCycle Disorders
Serum amino acid profiles cycle disorders is based on Initial testing . For example, elevated ornithine indicates CPS deficiency or OTC deficiency, whereas elevated citrulline indicates citrullinemia. To distinguish between CPS deficiency and OTC deficiency, orotic acid measurement is helpful because accumulation of carbamoyl phosphate in OTC deficiency results in its alternative metabolism to orotic acid. Genetic testing can confirm the diagnosis. 