A 6-month-old girl born overseas, who had no newborn screening, is brought in for developmental delay. She has eczema, unusually light skin and hair, and her urine has a musty smell. A deficiency of which enzyme is the most likely cause?
Sample of the exam: same format, 20 questions.
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Sources: USMLE and 4 more. Checked October 2026.
- USMLE: Step 1 Materials (sample questions) ↗
- USMLE: Step 2 CK Materials (sample questions) ↗
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- USMLE: Step 2 CK Content Outline and Specifications ↗
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