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Inborn Errors of Metabolism · USMLE Step 1

Which of these is a common biochemical consequence of inborn errors of metabolism in amino-acid pathways?

  1. Depletion of essentially all amino acids from the plasma pool
  2. Accumulation of upstream substrates or toxic metabolites
  3. Overproduction of ATP causing a hyperenergetic metabolic state
  4. Markedly increased fatty acid oxidation as compensation
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Correct answer: Accumulation of upstream substrates or toxic metabolites

Enzyme deficiencies in metabolic pathways often lead to inability to process substrates, resulting in their accumulation — sometimes as toxic metabolites — which underlies many inborn errors of metabolism.

Difficulty: Medium Question 5 of 19

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