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Preparing for your appointment
By Mayo Clinic staffPKU is generally diagnosed through newborn screening. Once your child is diagnosed with PKU, you'll likely be referred to a medical center or specialty clinic with experience in managing PKU. In addition to a doctor who specializes in treating PKU, you'll also need the assistance of a dietitian with expertise in the PKU diet.
Because appointments can be brief, and there's often a lot of ground to cover, it's a good idea to arrive well prepared. Here's some information to help you get ready for your appointment.
What you can do
- Ask a family member or friend to come with you, if possible. Sometimes it can be difficult to remember all of the information provided to you during an appointment. Someone who accompanies you may remember something that you missed or forgot.
- Write down questions to ask your doctor or dietitian.
Your appointment time may be limited, so preparing a list of questions can help you make the most of your time. List your questions from most important to least important in case time runs out. For PKU, some basic questions to ask include:
- How did my child get PKU?
- How can we manage PKU?
- Are there any medications to treat this disease?
- What foods are completely off-limits?
- How much formula will my child need?
- What happens if my child eats a food that he or she is not supposed to eat?
- Is this condition temporary or long-lasting?
- If I have another child, will he or she have PKU?
- Are there any brochures or other printed material that I can take home with me? What Web sites do you recommend visiting?
- Will my child have to stay on this special diet for life?
- Did something I did or didn't do during pregnancy cause this to happen?
- Bodamer OA. Overview of phenylketonuria. http://www.uptodate.com/home/index.html. Accessed Aug. 18, 2009.
- Phenylketonuria. Genetics Home Reference. http://ghr.nlm.nih.gov/condition=phenylketonuria. Accessed Aug. 27, 2009.
- PKU (Phenylketonuria). March of Dimes. http://www.marchofdimes.com/professionals/14332_1219.asp. Accessed Aug. 24, 2009.
- Longo Nicola. Inherited disorders of amino acid metabolism in adults. In: Fauci AS, et al. Harrison's Principles of Internal Medicine. 17th ed. New York, N.Y.: McGraw Hill Medical; 2008. http://www.accessmedicine.com/content.aspx?aID=2882866. Accessed Aug. 27, 2009.
- Amino acid and organic acid metabolism disorders. The Merck Manuals: The Merck Manual for Healthcare Professionals. http://www.merck.com/mmpe/print/sec19/ch296/ch296c.html. Accessed Aug. 27, 2009.
