USMLE Step 1 Quiz
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BIOCHEMISTRY
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A 7-month-old infant presents with failure to thrive and progressive liver disease. Physical exam shows jaundice and significant hepatomegaly. Laboratory studies show elevated liver transaminases and evidence of renal tubular dysfunction (Fanconi syndrome). The infant's urine has a characteristic 'boiled cabbage' odor.
This severe disorder of tyrosine metabolism is caused by a deficiency of which enzyme?
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