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Parents of a 3-Month-Old Infant Arrive at the ER Agitated

Question 1

Multiple Choice

Parents of a 3-month-old infant arrive at the ER agitated and frightened by the extreme lethargy and near comatose state of their child. Examination shows the infant to be severely hypoglycemic accompanied by low measurable ketones in the urine and blood. Blood analysis also indicates an elevation in butyric and propionic acids and as well as C8-acylcarnitines. A deficiency in which of the following enzymes is most likely responsible for these observations?


A) CPT-I
B) hormone-sensitive lipase (HSL)
C) lipoprotein lipase (LPL)
D) long-chain acyl-CoA dehydrogenase (LCAD)
E) medium-chain acyl-CoA dehydrogenase (MCAD)

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