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Inborn Errors of Metabolism · USMLE Step 1

Which of the following is true regarding inheritance and prevalence of most inborn errors of metabolism?

  1. They are usually autosomal dominant and individually common
  2. They are usually autosomal recessive: each rare but collectively frequent
  3. They are X-linked and therefore affect only male children
  4. They arise almost exclusively from new de novo mutations
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Correct answer: They are usually autosomal recessive: each rare but collectively frequent

Most IEMs are inherited in an autosomal recessive fashion; although each disorder is individually rare, together they occur more commonly as a group.

Difficulty: Medium Question 11 of 19

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