Inborn Errors of Metabolism · USMLE Step 1

Why are many inborn errors of metabolism (IEMs) detected via newborn screening?

They produce overt clinical symptoms only later in adulthood
They cause early accumulation of abnormal metabolites in blood or urine
They manifest solely as structural malformations of organs
They primarily raise adult-onset risks such as hypertension

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Correct answer: They cause early accumulation of abnormal metabolites in blood or urine

Many IEMs result in accumulation of abnormal substrates or metabolites shortly after birth, which can be detected by blood or urine screening — allowing early diagnosis and management.

Difficulty: Medium Question 8 of 19

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