Urea Cycle Defects and Hyperammonemia MCQ — NEET PG Practice Question | NEETPGAI
Urea Cycle Defects and Hyperammonemia
medium
flask-conical Biochemistry
A 3-year-old boy presents with developmental delay, seizures, and hyperammonemia (plasma ammonia 180 µmol/L). Genetic testing reveals a deficiency in carbamoyl phosphate synthetase I (CPS I). His 6-year-old sister has similar symptoms but normal CPS I activity; genetic testing shows ornithine transcarbamylase (OTC) deficiency. Which clinical feature best distinguishes OTC deficiency from CPS I deficiency?
See the options, answer & explanation
Sign in free to reveal the answer choices, the correct answer, the detailed explanation, and AI-powered insights for this question.
