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Phenylketonuria (PKU)?


A woman with the rare recessive disease phenylketonuria (PKU), who had been treated with a
diet having low levels of the amino acid phenylalanine, was told that it was unlikely her children would inherit PKU because her husband did not have it. However, her first child had PKU. Please list all the possible explanations (at least 3). What is the most likely one? Assuming this explanation is true, what would be the probability of her second child having PKU? Please show those pedigrees.

Phenylketonuria is a clinical syndrome of mental retardation with cognitive and behavioral abnormalities caused by elevated serum phenylalanine. The primary cause is deficient phenylalanine hydroxylase activity. Diagnosis is by detecting high phenylalanine levels and normal or low tyrosine levels. Treatment is lifelong dietary phenylalanine restriction. Prognosis is excellent with treatment.
If both parents are carriers, there is a 25% chance with each child to show the recessive trait.
Please see the web pages for more details on Phenylketonuria and Recessive gene.

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