Phenylalanine can cause intellectual disabilities, brain damage, seizures and other problems in people with PKU. A dangerous buildup of phenylalanine can develop when a person with PKU eats protein-rich foods, such as milk, cheese, nuts or meat, or grains such as bread and pasta, or aspartame, an artificial sweetener. Your healthcare provider will take a sample of blood from your babys heel by poking it with a small needle. But when a child inherits the defective gene from both carrier parents, it would cause PKU. Humans cannot make phenyalanine, but it is a natural part of the foods we eat. the unsubscribe link in the e-mail. I hope this webpage has answered some of the questions you originally went searching for regarding the scary-sounding warning: Phenylketonurics - Contains Phenylalanine! Please contact for permissions. Since this substance can be dangerous for people with PKU, they cant consume such products. Phenylalanine isn't a health concern for most people. The Truth About Raspberry or Strawberry Flavor from Beaver Glands. Eunice Kennedy Shriver National Institute of Child Health and Human Development. Phenylketonuria (PKU) is a genetic condition that causes elevated levels of a substance called phenylalanine to build up in your body. Tim Tam Calories, Ingredients, and the infamous TimTamSlam, Kilojoules to Calories (kJ to Cal) Converter, Calorie Deficit Calculator (To Lose Weight). This long, scary-sounding word is included in a warning at the end of the ingredients list on some products, but it is NOT an ingredient these products. Phenylalanine occurs naturally in many protein-rich foods, such as milk, eggs and meat. What is the Difference Between Convection and Induction Cooking? The elevated levels of phenylalanine can cause damage to the developing brain of a child, resulting in brain damage and mental impairment. Boyer SW (expert opinion). This includes drinks like black coffee. Consider this, out of all the complaints that the FDA receives every single year, adverse reactions to the artificial sweetener aspartame comprises . However, people do not need all the phenyalanine they eat, so the body converts extra phenylalanine to another harmless amino acid, tyrosine. Drugs. Genetics in Medicine. "Phenylketonurics" is NOT something you can catch from diet soda! Two additional questions that people often ask when they learn of the true meaning of the warning label on diet soda are - Do I have PKU? Vockley, J, et al. Make a donation. Phenylalanine is also sold as a dietary supplement. Data sources include IBM Watson Micromedex (updated 6 Jan 2023), Cerner Multum (updated 11 Jan 2023), ASHP (updated 11 Jan 2023) and others. Terms of use. In some cases, both parents are carriers. They also have to track what she/he eats and how much she/he eats each day. Can whole-grain foods lower blood pressure? But is it something you should be afraid of? This gene helps create the enzyme needed to break down phenylalanine. In the US, there are less than 50,000 with this disease. Phenylalanine in diet soda: Is it harmful? So - kind of like how the word "diabetics" refers to people that have "diabetes", "phenylketonurics" refers to the people that have "phenylketonuria". Phe toxicity can be very dangerous. If you or your child develops symptoms of phenylketonuria, contact your healthcare provider for a thorough evaluation. The easiest way to lookup drug information, identify pills, check interactions and set up your own personal medication records. This list does not include every symptom. A medication called Pegvaliase (Palynziq) allows people with PKU to eat an unrestricted diet without any supplements or Kuvan. Genetic and Rare Diseases Information Center. However, for foods which are artificially formulated with phenylalanine-containing ingredients, it becomes necessary to give Phenylketonurics the heads-up. Most high protein foods contain much much more of the amino than a diet soda or other diet drink does. Remember, it is okay to decide not to participate in research. They start developing symptoms when they are fed and phenylalanine enters their system. If you buy frozen vegetables, make sure there's no cream or cheese sauce, which will add additional protein and phenylalanine. To have an autosomal recessive disorder, you inherit two changed genes, sometimes called mutations. Get useful, helpful and relevant health + wellness information. Check out these best-sellers and special offers on books and newsletters from Mayo Clinic Press. Review/update the A musty odor to their breath, skin or urine. Studies suggest that there's a higher risk among people of Native American or European descent. All rights reserved. Phenylketonuria is a genetic condition where levels of phenylalanine build up in your body. It is also present in bananas. Accessed Jan. 28, 2022. Even though phenylalanine is an essential amino acid for the body, the excess accumulation will harm certain tissues and out of which, the brain tissues will be the most susceptible. Children without PKU still need their protein. Although missions of organizations may differ, services may include, but are not limited to: What do disease-specific organizations do? information highlighted below and resubmit the form. Because your body is unable to produce enough L-phenylalanine on its own, it's considered an essential amino acid, meaning you need to get it from your diet. "Mayo," "Mayo Clinic," "MayoClinic.org," "Mayo Clinic Healthy Living," and the triple-shield Mayo Clinic logo are trademarks of Mayo Foundation for Medical Education and Research. When women with PKU have high blood phenylalanine levels during pregnancy, it can harm their unborn baby. }. health information, we will treat all of that information as protected health PKU is an inherited disorder that makes a person unable to digest the amino phenylalanine (Phe). Palynziq (prescribing information). These children are now adults; many of them have noticed health problems and have decided, of their own accord, to return to the PKU diet. Later, high protein foods must be restricted, along with certain other phenylalanine-containing foods, which includes anything containing aspartame. The results, down the road, can be devastating. Foods that can cause problems for phenylketonurics include meat, cheese, milk, and nuts. Taking vitamins, minerals and supplements. But it is usually included on labels to warn phenylketonurics a group of people. These symptoms may be different from person to person. Out of 500 babies which do test positive for PKU on the first test, on average only one will actually have the disorder. So it builds up to toxic levels. Based on the number of emails I have received from people like yourself who have found this webpage, I believe that aspartame poisoning is much more common than people realize. If babies are put on the low protein diet at a young age, and they follow the diet throughout life, there is no evidence that their PKU will be a major hindrance in their accomplishments. Autosomal means the gene is located on any chromosome except the X or Y chromosomes (sex chromosomes). Two carriers have a 25% chance of having an unaffected child with two unaffected genes (left). Untreated PKU can lead to complications in infants, children and adults with the disorder. Phenylketonurics have a genetic defect that makes their body unable to help create a vital enzyme. If phenylalanine is in it's natural form, then the answer to this question is a great big resounding NO. Patient organizations are available to help find a specialist for this condition. Your in-depth digestive health guide will be in your inbox shortly. Does soy really affect breast cancer risk? Just think of it in light of the term, diabetics, which refers to those who have diabetes. People with phenylketonuria can't metabolize phenylalanine. About & Disclaimer | Terms | Privacy | Contact, Amino Acids and their Structure and Function, How Proteins are Broken down into Amino Acids, What Does a Positive TB Test Look Like? How Long Do They Last? Are Phenylketonurics bad for you? Thats why dangerous toxicity might occur when a person with this defective gene eats protein foods. I want to note that I am NOT a medical professional (my Ph.D. is in Astronomy, not medicine), and you should never make important decisions about your health without the guidance of a medical specialist. This site complies with the HONcode standard for trustworthy health information: verify here. What is Phenylketonuria (PKU)? One question that I often get asked by people who read this webpage - "Is phenylalanine harmful to people that don't have PKU?". Some food products include the warning: Phenylketonurics: Contains Phenylalanine. Newer medications may allow some people with PKU to eat a diet that has a higher or an unrestricted amount of phenylalanine. If we combine this information with your protected Simply put, Phenylketonurics means People who suffer from Phenylketonuria, whilst phenylalanine is the name of a particular essential amino acid which cannot be made in the human body. Less severe forms, sometimes called "mild PKU", "variant PKU" and "non-PKU hyperphenylalaninemia", have a smaller risk of brain damage. Newborns receive this test between 24 to 72 hours after birth as part of the newborn screen. Hence the warning! This disease is inherited in the following pattern(s): Patient advocacy and support organizations offer many valuable services and often drive the research and development of treatments for their disease(s). You can unsubscribe at any Well, lets start by clearing the air. Whether they are babies, children, or adults, phenylketonurics must limit Phe in their diet. 1998-2023 Mayo Foundation for Medical Education and Research (MFMER). Cleveland Clinic is a non-profit academic medical center. Please feel free to send me an email: kineala@mac.com with comments/suggestions on your case or on improving this website. Women who have PKU and become pregnant are at risk of another form of the condition called maternal PKU. Symptoms are worse among severe cases in those who are untreated. information submitted for this request. A musty odor to their breath, skin or urine. I hope this helps! There are different types of phenylketonuria (PKU) based on the severity of the diagnosis. Several people decide to stay away from diet sodas with this warning because they dont know what the word means. Some organizations build a community of patients and families impacted by a specific disease or group of related diseases. Aspartame is an artificial sweetener made with phenylalanine. Phenylketonurics, referring to people with Phenylketonuria (PKU) which is a genetic disease that affects the metabolism of the amino acid, phenylalanine. privacy practices. PKU formulas are special nutritional supplements that phenylketonurics might have to take for life. Mutations in both copies of the PAH gene causes phenylketonuria (PKU). Depending on the severity of the PKU, babies who were not treated for the disorder and put on the special diet at birth run the risk of suffering irreversible mental retardation within the first year of life. Phenylalanine is an amino acid naturally found in many proteins such as meat, milk and eggs. Only a few drops of blood are necessary for this test. Aspartame is a widely used artificial sweetener and a popular sugar substitute in low-calorie food and drinks, including diet sodas. Why Do We Say a Fifth of Whiskey, Rum, or Vodka? These amino acids are then used to make our own proteins. People with PKU have a deficiency of an enzyme which is necessary for the proper metabolism of an amino acid called Phenylalanine (i.e., the component in diet soda included in the warning). what is phenylketonurics in drinks information highlighted below and resubmit the form. Phenylalanine is found in a large number of foods, including chicken, eggs, milk, beef, soybeans, and pork. . If this condition isn't treated, buildup of phenylalanine in your body causes symptoms including challenges with cognitive development (intellectual disability). Many rare diseases have limited information. These formulas have the right amino acids, calories, vitamins, and minerals your child needs. Phenylalanine is found in the body as part of normal biochemical pathways, but problems arise when levels are persistently higher than normal. PKU is an inherited disorder that makes a person unable to digest the amino phenylalanine (Phe). Phenylalanine is an essential amino acid that is in nearly all proteins - meats, dairy products, eggs, nuts, legumes etc. Mayo Clinic. clip-path: url(#SVGID_2_); A person diagnosed with phenylketonuria (PKU) needs to eat a special diet to limit the amount of foods that contain phenylalanine (if they're not treated with Pegvaliase). National Human Genome Research Institute. People with PKU have a deficiency of an enzyme which is necessary for the proper metabolism of an amino acid called Phenylalanine (i.e., the component in diet soda included in the warning). Aspartame is the artificial sweetener in some sodas that make them unsuitable for people with PKU. Severe symptoms of untreated PKU include: Children and adults with mild hyperphenylalaninemia are at a much lower risk for intellectual disabilities in the absence of treatment. Federal regulations require that any beverage or food that contains aspartame bear this warning: "Phenylketonurics: Contains phenylalanine." Keep in mind that since children are rapidly growing, they already take in a much higher proportion of phenylalanine than adults do. Phenylalanine is an essential amino acid and it is found in nearly all foods which contain protein: meat (of all kinds), dairy products, nuts, beans, tofu the list goes on and on. Thanks for visiting. Eunice Kennedy Shriver National Institute of Child Health and Human Development. After diagnosis, regular blood tests to monitor the level of phenylalanine in your blood are necessary. Body Fat Percentage Calculator (for Women and Men), Optislim! Genes, like chromosomes, usually come in pairs. Your Ultimate Guide (Benefits Reviewed), 69 McDonald's Calories ranked Lowest to Most (with pictures), 15 Best Australian Meal Delivery for Weight Loss, Coke No Sugar vs. Snack: low protein bread with jam In children with phenylketonuria, the gaining of height would be noticeably reduced and the brain growth would also be less as depicted by small head circumference. If a person with uncontrolled PKU has high levels of phenylalanine during pregnancy, this can cause intellectual disability, birth defects and other problems in their baby, even if the baby doesn't have PKU. This long, scary-sounding word is included in a warning at the end of the ingredients list on some products, but it is NOT an ingredient these products. Any amino acids that are not needed are broken down further and . Phenylketonuria, or PKU for short, is an inherited condition that affects about one in 15,000 people. Your phenylketonuria (PKU) diagnosis is lifelong, so stay up to date with your healthcare provider and get routine blood tests to monitor the level of phenylalanine in your body. Take certain medications, such as monoamine oxidase inhibitors, neuroleptics or medications that contain levodopa (Sinemet, Rytary, others), Have the muscle movement disorder tardive dyskinesia, Have a sleep disorder, anxiety disorder or other mental health condition; phenylalanine may worsen feelings of anxiety and jitteriness. The artificial sweetener aspartame (Equal, NutraSweet), which is added to many medications, diet foods and diet sodas, contains phenylalanine. Its the term that describes people with PKU. However, this diet just highlights the fruit and vegetable portion of any diet. Although there is no cure for PKU, recognizing PKU and starting treatment right away can help prevent limitations in areas of thinking, understanding and communicating (intellectual disability) and major health problems. The first and most severe type is called classic PKU. the unsubscribe link in the e-mail. 2014; doi:10.1038/gim.2013.157. Phenylketonuria (PKU): Condition Information. Phenylalanine isn't a health concern for most people. I want to note that I am NOT a medical professional (my Ph.D. is in Astronomy, not medicine), and you should never make important decisions about your health without the guidance of a medical specialist. What do they mean? However, if you think you may be experiencing effects of aspartame poisoning, I recommend an easy test - avoid all aspartame containing products for 1 month. Usually, the newborns in certain countries are screened for Phenylketonuria and its early identification would enable the control of body phenylalanine levels by ways of restricting foods. Simply put, "Phenylketonurics" means "People who suffer from Phenylketonuria", whilst "phenylalanine" is the name of a particular essential amino acid which cannot be made in the human body. If you are a Mayo Clinic patient, this could Accessed July 3, 2018. Amino acids are the building blocks of. I personally know of several people who refuse to drink diet soda because the word "phenylketonurics" sounds too scary! You may opt-out of email communications at any time by clicking on Talk to your health care provider in these situations: There is a problem with Last reviewed by a Cleveland Clinic medical professional on 08/15/2022. clip-path: url(#SVGID_6_); Thanks for visiting. We know the word sounds like a long, complex, and scary term. Electronic Code of Federal Regulations. These days, most doctors that provide care for PKU patients preach that the low protein PKU diet should be a way of life and, if we value our health and well-being, those of us with the disorder should never stray from it. It is believed that aspartame can cause a wide range of side effects - from stomach problems, to headaches, nausea and skin rashes. What does "phenylketonurics" mean? You will also receive Phenylketonurics is a term that describes those who have PKU. To get adequate amounts of other amino acids found in protein (without the damaging phenylalanine), people with PKU also have to take a special formula which is usually in the form of a liquid beverage. Overview of phenylketonuria. With proper diet, those with PKU can live normal lives.1, Phenylalanine poses no danger to anyone without PKU. However, if your symptoms persist and do not disappear in this time, then you should seek immediate medical assistance to determine the true nature of your problems. If you plan on becoming pregnant, talk to your provider about genetic testing to understand your risk of having a child with a genetic condition. The nervous system is made up of the brain, spinal cord, and nerves. Accessed Jan. 28, 2022. Many of the foods you eat that contain protein and the artificial sweetener aspartame have phenylalanine. Sodium to Salt Calculator (Salt to Sodium Conversion), My Muscle Chef Review (we eat the curry! 2021; doi:10.1016/j.clnu.2020.11.003. Mayo Clinic offers appointments in Arizona, Florida and Minnesota and at Mayo Clinic Health System locations. A gene change (genetic mutation) causes PKU, which can be mild, moderate or severe. Seizures can occur and they often suffer from bad eczema. & I've heard a rumor that this could be why turkey, which is a high phenylalanine food, always seems to make people sleepy (in addition to the amino acid tryptophan, which is also a natural sleep aid). Have you ever looked at the label on a diet soda can and seen the warning: Phenylketonurics - contains phenylalanine? Long story short, Phenylalanine is an essential amino acid along with Tyrosine. Naturally found in protein-rich foods and . But some people can not. PMCID: PMC7926728 DOI: 10.3390/nu13020707 Abstract Aspartame is a phenylalanine containing sweetener, added to foods and drinks, which is avoided in phenylketonuria (PKU). 2019; doi:10.1007/s40265-019-01079-z. High-intensity sweeteners. Mothers who have PKU and no longer follow a phenylalanine-restricted diet have an increased risk of having children with an intellectual disability, because their children may be exposed to very high levels of phenylalanine before birth. Genetic and Rare Diseases Information Center. Those of us that have PKU must follow a strict "low protein" diet to avoid all food sources that have high phenylalanine content. Healthcare providers confirm a diagnosis of phenylketonuria (PKU) shortly after birth as part of routine newborn screening via a blood test. A single copy of these materials may be reprinted for noncommercial personal use only. The unwanted build-up of phenylalanine in the bodies of Phenylketonurics may be significantly worsened by the unknowing consumption of aspartame-sweetened products like diet coke.
