A 3-year-old boy from North India presents with recurrent episodes of vomiting, lethargy, and developmental delay. Plasma ammonia is 180 µmol/L (normal <50). Urine orotic acid is markedly elevated. Genetic testing confirms a deficiency in ornithine transcarbamylase (OTC). Which of the following statements about OTC deficiency is NOT true?

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.