A 4-year-old male is brought to the pediatrician because of gastroenteritis for 3 days, followed by a brief generalized seizure that left him semicomatose. The blood glucose level at admission is 18 mg/dL (0.10 mM) and urine is negative for glucose and ketones, but positive for a variety of organic dicarboxylic acids. Intravenous administration of glucose improves his condition within 10 minutes. Following diagnosis of an enzyme deficiency, his parents are cautioned to make sure he eats frequently. Which of the following is the most likely diagnosis?
- A)Glucose-6-phosphatase deficiency
- B)Ornithine transcarbamoylase deficiency
- C)Mitochondrial carbamoyl phosphate synthetase deficiency
- D)Medium-chain acyl-CoA dehydrogenase deficiencyGABARITO
- E)Hepatic glycogen phosphorylase deficiency
Explicação
The correct answer is C. Source: Kaplan USMLE Step 1 QBank — Biochemistry Test 1. Ver explicação completa e trilha adaptativa →