Inborn Errors of Metabolism · USMLE Step 1

Which of the following metabolic disorders would most likely present with hyperammonemia due to impaired nitrogen disposal?

  1. Maple Syrup Urine Disease (MSUD)
  2. Urea cycle disorder
  3. Medium-chain acyl-CoA dehydrogenase deficiency
  4. Glycogen storage disease
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Correct answer: Urea cycle disorder

Urea cycle disorders impair the body’s ability to convert toxic ammonia into urea for excretion, leading to hyperammonemia, a hallmark of these inborn errors.

Difficulty: Medium Question 9 of 19

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