A two – week – old baby is found to have had an abnormal result on newborn screening. A second sample is run, showing an elevated serum phenylalanine level and confi rming the diagnosis of phenylketonuria (PKU). The baby ’ s parents are then referred to a metabolic geneticist for follow – up. When they arrive at the specialist ’ s offi ce, they look anxious and concerned. They are somewhat nervous and puzzled about their situation because their baby appears healthy, has been feeding well, and exhibits no outward signs of any abnormalities. The parents insist that the results must be a mistake because there is no known family history of metabolic disease on either the mother ’ s or the father ’ s side. How would you approach these parents? What would you say to them?
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