**Core Concept**
This case involves a urea cycle disorder (UCD), specifically ornithine transcarbamylase (OTC) deficiency, leading to hyperammonemia. UCDs impair ammonia detoxification, causing encephalopathy, cerebral edema, and metabolic acidosis. OTC deficiency is the most common UCD and is **X-linked recessive**.
**Why the Correct Answer is Right**
OTC deficiency blocks the urea cycle at the step converting carbamoyl phosphate and ornithine to citrulline. This leads to ammonia accumulation (elevated to 652 mmol/L), orotic aciduria (due to shunting of carbamoyl phosphate to pyrimidine synthesis), and altered amino acids (elevated glutamine, reduced arginine). The X-linked pattern explains why males are more severely affected and why female carriers may show symptoms with skewed X-inactivation.
**Why Each Wrong Option is Incorrect**
**Option A:** Autosomal recessive inheritance: Incorrect
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