A 16-month-old boy is brought to the emergency room for lethargy for the past two hours. On arrival he is unresponsive and tachycardic. Physical examination shows hepatomegaly. Laboratory studies are as follows:
Serum: ↓ glucose; ↓ ketones
Urine: ↓ ketones, ↑ dicarboxylic acids
An acylcarnitine profile is performed and shown below.
Which of the following enzymes is most likely deficient in this patient?
Acetyl-CoA carboxylase
Hormone-sensitive lipase
Lipoprotein lipase
Medium-chain acyl-CoA dehydrogenase
Propionyl-CoA carboxylase
—
Cut-to-the-chase Answer (0:41):
—
HY USMLE Answer (11:37):
