Your cousin finds out that she is a carrier for phenylketonuria. Also, her husband's biological mother
has phenylketonuria. She asks you to explain what this could mean if she and her husband have
children and asks what, if anything, could be done to best protect any child that they have. What would
you tell her?
What will be an ideal response?
First, I would tell her that phenylketonuria is easily treated by dietary adjustments, and that with
proper guidance and behavior people with phenylketonuria are able to lead full, productive, and
essentially normal lives. I would tell her that the way phenylketonuria is inherited guarantees that her
husband is also a carrier, since his mother has it. He got a normal copy of the gene involved in
phenylketonuria from his father, and he got the phenylketonuria form of the gene from his mother. The
normal copy from his father prevents him from having phenylketonuria himself. I would tell her that,
as a carrier, she is in the same situation--she has one normal copy of the gene and one abnormal copy,
and the normal copy keeps her from having phenylketonuria. Since the odds of passing on any gene
copy are essentially the same as flipping a coin, any child that she has will have a 50% chance of
getting a normal copy of the gene from her and a 50% chance of getting an abnormal copy. The same
will apply for her husband. Since having phenylketonuria requires having an abnormal gene copy from
both parents, each child that they produce will have a 25% chance of having phenylketonuria. Then, I
would tell her that nearly all hospitals in the United States screen newborn infants for phenylketonuria,
and that she should ensure that such a test is done for any child that she has. If the results of the test
indicate that the child has phenylketonuria, she should follow the dietary instructions for the child
closely to ensure that phenylketonuria does not affect the mental abilities of the child.
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