Citrullinemia type I results from deficiency of the
**Core Concept**
Citrullinemia type I is a rare genetic disorder caused by a deficiency in the enzyme responsible for converting citrulline to argininosuccinate in the urea cycle. The urea cycle is a critical pathway for the disposal of ammonia, a toxic byproduct of protein metabolism.
**Why the Correct Answer is Right**
The correct answer is Argininosuccinate synthase (B). This enzyme catalyzes the condensation of citrulline with aspartate to form argininosuccinate, a crucial step in the urea cycle. A deficiency in this enzyme leads to the accumulation of citrulline and other toxic intermediates, resulting in citrullinemia type I. The pathophysiology involves impaired ammonia detoxification and subsequent hyperammonemia.
**Why Each Wrong Option is Incorrect**
**Option A:** Isocitrate dehydrogenase is an enzyme involved in the citric acid cycle (also known as the Krebs cycle or tricarboxylic acid cycle), which is a distinct metabolic pathway from the urea cycle. A deficiency in this enzyme would lead to different clinical manifestations.
**Option C:** Pyruvate dehydrogenase is an enzyme complex that converts pyruvate to acetyl-CoA, a key step in the transition from glycolysis to the citric acid cycle. Its deficiency would lead to impaired energy metabolism and not citrullinemia type I.
**Option D:** Succinyl-CoA synthase is an enzyme involved in the citric acid cycle, where it catalyzes the conversion of succinyl-CoA to succinate. A deficiency in this enzyme would also lead to impaired energy metabolism.
**Clinical Pearl / High-Yield Fact**
Citrullinemia type I is a treatable condition, and early diagnosis and dietary restriction can prevent severe complications. It is essential for clinicians to be aware of this rare disorder and its characteristic clinical presentation, which includes developmental delay, seizures, and hyperammonemia.
**β Correct Answer: B. Argininosuccinate synthase**