DiagnosisNewborn screening identifies almost all cases of phenylketonuria. All 50 states in the United States require newborns to be screened for PKU. Many other countries also routinely screen infants for PKU. Show
If you have PKU or a family history of it, your health care provider may recommend screening tests before pregnancy or birth. It's possible to identify PKU carriers through a blood test. Testing your baby after birthA PKU test is done a day or two after your baby's birth. For accurate results, the test is done after your baby is 24 hours old and after your baby has had some protein in the diet.
If this test indicates that your baby may have PKU:
TreatmentStarting treatment early and continuing treatment throughout life can help prevent intellectual disability and major health problems. The main treatments for PKU include:
A safe amount of phenylalanine differs for each person with PKU and can vary over time. In general, the idea is to consume only the amount of phenylalanine that's necessary for healthy growth and body processes, but no more. Your health care provider can determine a safe amount through:
Your health care provider may refer you to a registered dietitian who can help you learn about the PKU diet, make adjustments to your diet when needed, and offer suggestions on ways to manage PKU diet challenges. Which foods and products to avoidBecause the amount of phenylalanine that a person with PKU can safely eat is so low, it's important to avoid all high-protein foods, such as:
Potatoes, grains and other vegetables will likely be limited. Children and adults also need to avoid certain other foods and beverages, including many diet sodas and other drinks that contain aspartame (NutraSweet, Equal). Aspartame is an artificial sweetener made with phenylalanine. Some medications may contain aspartame and some vitamins or other supplements may contain amino acids or skim milk powder. Check with your pharmacist about the contents of nonprescription products and prescription medications. Talk with your health care provider or registered dietitian to learn more about your specific dietary needs. Formula for people with PKUBecause of the restricted diet, people with PKU need to get essential nutrients through a special nutritional supplement. The phenylalanine-free formula provides essential protein (amino acids) and other nutrients in a form that's safe for people with PKU. Your health care provider and dietitian can help you find the right type of formula.
The need for a nutritional supplement, especially if you or your child doesn't find it appealing, and the limited food choices can make the PKU diet challenging. But making a firm commitment to this lifestyle change is the only way to prevent the serious health problems that people with PKU can develop. PKU medicationThe Food and Drug Administration (FDA) approved the drug sapropterin (Kuvan) for the treatment of PKU. The drug may be used in combination with a PKU diet. Some people with PKU who are taking the medication may not need to follow a PKU diet. But the drug doesn't work for everyone with PKU. The FDA also approved a novel enzyme therapy, pegvaliase-pqpz (Palynziq), for adults with PKU when current therapy does not adequately reduce the level of phenylalanine. But because of frequent side effects, which can be severe, this treatment is only available as part of a restricted program under the supervision of certified health care providers. Subscribe for free and receive your in-depth guide to digestive health, plus the latest on health innovations and news. You
can unsubscribe at any time. To provide you with the most relevant and helpful information, and understand which information is beneficial, we may combine your email and website usage information with other information we have about you. If you are a Mayo Clinic patient, this could include protected health information. If we combine this information with your protected health information, we will treat all of that information as protected health information and will only use or disclose
that information as set forth in our notice of privacy practices. You may opt-out of email communications at any time by clicking on the unsubscribe link in the e-mail. Lifestyle and home remediesStrategies to help manage PKU include keeping track of foods eaten, measuring correctly, and being creative. Like anything, the more these strategies are practiced, the greater the comfort and confidence you can develop. Keep track and measure correctlyIf you or your child is following a low-phenylalanine diet, you'll need to keep records of the food eaten every day. To be as accurate as possible, measure food portions using standard measuring cups and spoons and a kitchen scale that reads in grams. The food amounts are compared with a food list or are used to calculate the amount of phenylalanine eaten every day. Each meal and snack includes the appropriately divided portion of your daily PKU formula. Food diaries, computer programs and smartphone apps are available that list the amount of phenylalanine in baby foods, solid foods, PKU formulas, and common baking and cooking ingredients. Meal planning or meal rotations of known foods may help reduce some of the daily tracking. Be creativeTalk with your dietitian to find out how you can be creative with foods to help you stay on track. For example, use seasonings and a variety of cooking methods to transform lower phenylalanine vegetables into a whole menu of different dishes. Herbs and flavorings low in phenylalanine can have lots of flavor. Just remember to measure and count every ingredient and adjust recipes to your specific diet. If you have any other health conditions, you may also need to consider those when you plan your diet. Talk with your health care provider or dietitian if you have any questions. Coping and supportLiving with PKU can be challenging. These strategies may help:
Preparing for your appointmentPhenylketonuria 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 specialist who treats PKU and a dietitian with expertise in the PKU diet. Here's some information to help you get ready for your appointment and know what to expect. What you can doBefore your appointment:
Some questions to ask may include:
What to expect from your doctorYour health care provider is likely to ask you several questions. For example:
Your health care provider will ask additional questions based on your responses, symptoms and needs. Preparing and anticipating questions will help you make the most of your appointment time. What are the Apgar score for a normal infant at 1 minute and 5 minute?Current guidelines define 'normal' Apgar scores as 7 or more at 1 min and 8 or more at 5 min, indicating that the baby does not require assistance if scores are within these ranges.
What is the most widely used tool for assessing the condition of newborns?The Neonatal Behavioral Assessment Scale (NBAS) was developed by Dr. Berry Brazelton and his colleagues and today is regarded as the most comprehensive examination of newborn behavior available.
What are the 5 Apgar scores?The Apgar score comprises five components: 1) color, 2) heart rate, 3) reflexes, 4) muscle tone, and 5) respiration, each of which is given a score of 0, 1, or 2.
How do you assess an Apgar score?The Apgar score is a test given to newborns soon after birth. This test checks a baby's heart rate, muscle tone, and other signs to see if extra medical care or emergency care is needed. Babies usually get the test twice: 1 minute after birth, and again 5 minutes after they're born.
|