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The Chang Family Case Study

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The Chang Family Case Study
Brianna Rotert
10/14/14
MI
2.1.1 Case Study
Case # 643222C
The Chang Family

The Chang family was just blessed with their second child and are awaiting to take the baby home. Newborn screening revealed that the new baby, Jennifer, is positive for phenylketonuria (PKU). The Chang’s are confused because their baby looks normal and the pregnancy progressed with few complications. Mrs. Chang even had a normal amniocentesis early in the pregnancy. The Chang family is now looking for answers and advice on how to take care of their child. PKU occurs in about 1 in 10,000 to 1 in 15,000 newborns. It is a autosomal recessive trait and is caused when the gene phenylalanine hydroxylase is missing. Phenylalanine hydroxylase is needed to break down an
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