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Biochemistry, cell biology, and genetics

Tryptophan, methionine, and homocysteine metabolism

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SAMPLE QUESTION

A 9-year-old girl has recurrent episodes of an unsteady gait and a scaly rash on the face and backs of her hands. Episodes often follow a febrile illness or several days of poor food intake. Urine testing shows increased excretion of several neutral amino acids, including tryptophan. Urine glucose is absent, and serum bicarbonate and phosphate are normal.

Which defect best explains these findings?