Christine and Jeff Callahan Have Just Had Their First Child

question 16

Essay

Christine and Jeff Callahan have just had their first child, a healthy baby girl whom they named Maeve. The day after Maeve is born, the nurse takes a small blood sample from Maeve's heel to test for an elevated concentration of the amino acid phenylalanine in her blood. The nurse tells Christine that this test can detect phenylketonuria (PKU), a disease in which the body cannot convert phenylalanine into tyrosine. Children with untreated PKU have high concentrations of phenylalanine in their blood, causing severe, irreversible mental retardation in the first year of life. Therefore, it is critical that PKU be diagnosed early, so babies with the disease can be fed a diet that contains only the phenylalanine they need to build proteins. 1. In PKU why are there abnormally high concentrations of phenylalanine in the blood?
2. Is it possible for a baby to inherit this disease even if neither parent has PKU? Briefly explain.

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