Phenylketonuria 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 a doctor who specializes in treating PKU and a dietitian with expertise in the PKU diet.
Here's some information to help you get ready for your appointment.
What you can do
Before your appointment:
- Ask a family member or friend to come with you — sometimes it can be difficult to remember all of the information provided during an appointment.
- Make a list of questions to ask your doctor and dietitian to help you make the most of your time together.
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?
- What kind of formula will my child need?
- What is the recommended diet?
- Will my child have to stay on this special diet for life?
- Are there any other supplements needed?
- 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 brochures or other printed material that I can have? What websites do you recommend?
What to expect from your doctor
Your doctor is likely to ask you several questions. Be ready to answer them to reserve time to go over points you want to focus on. For example, your doctor may ask:
Nov. 26, 2014
- Has your child had any symptoms that concern you?
- Do you have any questions about your child's diet?
- Are you having any difficulty following the diet?
- Has the growth and development of your child been normal?
- Phenylketonuria. Genetics Home Reference. http://ghr.nlm.nih.gov/condition=phenylketonuria. Accessed Oct. 12, 2014.
- Greene CL, et al. National Institutes of Health (NIH) review of evidence in phenylalanine hydroxylase deficiency (phenylketonuria) and recommendations/guidelines for therapy from the American College of Medical Genetics (ACMG) and Genetics Metabolic Dietitians International (GMDI). Molecular Genetics and Metabolism. 2014;112:85.
- Camp KM, et al. Phenylketonuria Scientific Review Conference: State of the science and future research needs. Molecular Genetics and Metabolism. 2014;112:87.
- Ney DM, et al. Advances in the nutritional and pharmacological management of phenylketonuria. Current Opinion in Clinical Nutrition and Metabolic Care. 2014;17:61.
- Marcason W. Is there a standard meal plan for phenylketonuria (PKU)? Journal of the Academy of Nutrition and Dietetics. 2014;113:S1.
- Casey L. Caring for children with phenylketonuria. Canadian Family Physician. 2013;59:837.
- About phenylketonuria (PKU). National Human Genome Research Institute. http://www.genome.gov/25020037. Accessed Oct. 12, 2014.
- My PKU binder. National PKU Alliance. http://npkua.org/Education/MyPKUBinder.aspx. Accessed Oct. 21, 2014.
- Zeratsky KA (expert opinion). Mayo Clinic, Rochester, Minn. Nov. 5, 2014.
- Gavrilov DK (expert opinion). Mayo Clinic, Rochester, Minn. Nov. 10, 2014.
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