Allosteric Regulation and Feedback Inhibition | USMLE Step 1
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An 8-month-old boy is brought to the emergency department because of vomiting, poor feeding, and increasing drowsiness. His plasma ammonia concentration is 286 µmol/L (reference interval, 5–50). Evaluation identifies N-acetylglutamate synthase deficiency. Emergency treatment includes carglumic acid, an analogue of N-acetylglutamate, together with measures to reduce ammonia production and remove excess nitrogen.