Lipid Biochemistry USMLE Step 1 Practice Question
A 5 year old boy is evaluated for progressive muscle weakness and exercise intolerance. He has had two prior hospitalizations for hypoglycemia during prolonged fasting. Examination reveals hypotonia and cardiomegaly. Laboratory studies show low ketones during hypoglycemia. Which of the following defects is the most likely cause of this presentation?
Answer choices
- AOrnithine transcarbamylase deficiency
- BPyruvate dehydrogenase deficiency
- CSystemic primary carnitine deficiency causing impaired cellular uptake of carnitineCorrect answer
- DLysosomal acid alpha glucosidase deficiency
- EFructokinase deficiency
- FMCAD deficiency
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