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A Genetic Defect in Amino Acid Metabolism: A Case History A two-year-old child was taken to the hospital. His mother said that he vomited
A Genetic Defect in Amino Acid Metabolism: A Case History A two-year-old child was taken to the hospital. His mother said that he vomited frequently, especially after feedings. The child's weight and physical development were below normal. His hair, although dark, contained patches of white. A urine sample treated with ferric chloride (FeCl3) gave a green color characteristic of the presence of phenylpyruvate. Quantitative analysis of urine samples gave the results shown in the table. Substance Phenylalanine Phenylpyruvate Phenyllactate Concentration (mm) Patient's urine 7.0 4.8 10.3 Normal urine 0.01 0 0 (a) Suggest which enzyme might be deficient in this child. Propose a treatment. (b) Why does phenylalanine appear in the urine in large amounts? (c) What is the source of phenylpyruvate and phenyllactate? Why does this pathway (normally not functional) come into play when the concentration of phenylalanine rises? Why does the boy's hair contain patches of white? (d)
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