Inborn Errors of Metabolism · USMLE Step 1

Which of the following inborn errors of metabolism would classically present with a “sweaty-feet” odor of the body or urine?

  1. Isovaleric acidemia
  2. Phenylketonuria (PKU)
  3. Maple Syrup Urine Disease (MSUD)
  4. Medium-chain acyl-CoA dehydrogenase deficiency
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Correct answer: Isovaleric acidemia

Isovaleric acidemia, a type of organic acidemia, is known to produce a characteristic sweaty-feet odor due to accumulation of isovaleric acid in body fluids.

Difficulty: Medium Question 12 of 19

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