Study to Characterize Rate of Ureagenesis in Patients With Ornithine Transcarbamylase (OTC) Deficiency

Inclusion Criteria

• •Willing and able to provide written informed consent.
• •For symptomatic patients:
• •Confirmed clinical diagnosis of OTC deficiency and enzymatic, biochemical, or molecular testing.
• •Documented history of ≥ 1 symptomatic hyperammonemic episode with ammonia level ≥ 100 μmol/L
• •Patients on ongoing daily ammonia scavenger therapy must be at a stable dose(s) for ≥ 4 weeks prior to Visit 1 (Baseline)
• •For asymptomatic patients: confirmed diagnosis of OTC deficiency by family history and documented by molecular testing.
• •Willing and able to comply with the study procedures and requirements, including clinic visits, blood and urine collections, questionnaires, and cognitive assessments.