Question

Case Study: Madeline

Madeline is a 28 year old who is married and is 3 months pregnant. Madeline has presented to her doctor because she is aware that Phenylketonuria (PKU) runs in her family and her husband commented recently that one of his cousins was also undergoing tests for PKU.

Madeline thinks she may pass this disorder to her baby so she wants some information about it and would like to know what she can do to ensure her baby will be well.

1. What is Phenylketonuria (PKU)? Is it inherited and how?

2. How does it interact with diet?

3. What are specific foods that need to be controlled in the case of PKU?

4. What are the risks to Madeline and her baby?

Answer 1

Phenylketonuria (PKU) is a rare inherited disorder that causes an amino acid called phenylalanine to build up in the body. PKU is caused by a defect in the gene that helps create the enzyme needed to break down phenylalanine.

Normally, when a person eats foods that contain protein, special chemicals called enzymes break down these proteins into amino acids. The amino acids are then broken down further by other enzymes. A person with PKU does not have enough of the specific enzyme that breaks down the amino acid phenylalanine.

Foods made with GMP provide an alternative to the amino acid medical foods currently required in the PKU diet. Foods such as red meat, chicken, fish, eggs, milk, yogurt, cheese, nuts, soybeans and beans which are too high in protein should be avoided by a person having PKU

PKU is passed down through families. For a baby to have the disease, he or she must inherit the PKU gene from both parents. The father and mother may not have PKU or even know that PKU runs in their families. If a baby gets the gene from only one parent, he or she is a carrier of the PKU gene but does not have the disease.

Any woman with PKU who is planning to have a baby needs to be very careful to control her phenylalanine levels. Babies born to mothers who have high levels of phenylalanine are at risk for having a very small head, intellectual disability, growth problems, and heart problems.

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