Learn more about PKU in this article. High levels of phenylpyruvic acid damage the brain and can cause an array of side effects - mental retardation, the loss of pigmentation in the skin/hair/eyes (people with untreated PKU often have light skin, blond hair and blue eyes), a "mousy" or musty odor, muscle aches and pains and in extreme cases, even seizures. Sign up for free, and stay up to date on research advancements, health tips and current health topics, like COVID-19, plus expertise on managing health. Remember, it is okay to decide not to participate in research. Phenylketonuria. How do I know that I don't have PKU? 7 Artificial (Nonnutritive) Sweeteners Approved for Use In U.S. Aluminum Foil: Should the Shiny Side be Up or Down When Cooking? Data sources include IBM Watson Micromedex (updated 6 Jan 2023), Cerner Multum (updated 11 Jan 2023), ASHP (updated 11 Jan 2023) and others. Also, the fact that the amino is not converted to tyrosine causes a lack of tyrosine in the body. Why else would they put a warning about it on a label? One cup (240 ml) of black coffee contains about 3 calories and very small amounts of protein, fat, and trace . The synthesized chemical called ASPARTAME is the artificial sweetener that is used in many kinds of diet soda, sugar-free candies and gums, and many other sugar-free products. It is believed that aspartame can cause a wide range of side effects - from stomach problems, to headaches, nausea and skin rashes. Mayo Clinic does not endorse companies or products. . ), Fast Fuel Meals Calories, Lowest to Highest. Because PKU can be detected by a simple blood test and is treatable, PKU is part of newborn screening. Thus, the accumulated phenylalanine levels will give rise to following symptoms. National Human Genome Research Institute. PKU is caused by a change in the phenylalanine hydroxylase (PAH) gene. 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). digestive health, plus the latest on health innovations and news. Phenylalanine is also sold as a dietary supplement. A single copy of these materials may be reprinted for noncommercial personal use only. Work closely with your healthcare provider and/or a dietician to help you create a diet that's full of essential nutrients while eliminating phenylalanine. Accessed July 3, 2018. After diagnosis, regular blood tests to monitor the level of phenylalanine in your blood are necessary. Phenylalanine occurs naturally in many protein-rich foods, such as milk, eggs and meat. Well, let me take the opportunity to answer these questions. It is very rare, in the US an average of 1 in 15,000 babies is born with the disorder (this number varies from region to region). There is a particular concern among parents about the supposed harm of phenylalanine from aspartame in their childrens diet. 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. Any amino acids that are not needed are broken down further and . Accessed Jan. 28, 2022. Teach your child to also avoid foods and medicine containing aspartame. Phenylketonurics does not refer to any condition you can get because you drank a can of soda. In some cases, the gene would not be able to make the required enzyme at all. at newsletters@mayoclinic.com. Inheritance is autosomal recessive manner. It is also a component of some medications. Bodamer OA, et al. Body Fat Percentage Calculator (for Women and Men), Optislim! 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. In the past, children were taken off the low protein PKU diet at age 5 or 6 because it was believed that at this age the brain had developed to the point where elevated levels of phenylpyruvic acid in the blood would not cause severe health problems. The American Cancer Society has investigated this chemical's use and has not found any direct correlation between aspartame consumption and cancer. This gene helps create the enzyme needed to break down phenylalanine. For those who are on a restrictive diet, many people benefit from working closely with a dietician who can advise on the best foods to eat, what to avoid and how to get all the nutrients you need to stay healthy. What do organizations that focus on a medical condition do? People that have the disorder PKU cannot consume any product that contains aspartame, for reasons which I will elaborate on below. Children and adults also need to avoid certain other foods and beverages, including many diet sodas and other drinks that contain aspartame (NutraSweet, Equal). Mild hyperphenylalaninemia (least severe). When your body cant process the amino acids that you eat in your diet, they build up in your blood and tissues. Cholesterol: Top foods to improve your numbers. steam friends not showing up in epic. information submitted for this request. The enzyme phenylalanine hydroxylase normally converts the amino acid phenylalanine into the amino acid tyrosine.If this reaction does not take place, phenylalanine accumulates and tyrosine is deficient. Only a few drops of blood are necessary for this test. If those of us that have PKU do not follow a strict low protein diet, phenylalanine is not adequately digested in our bodies and it builds up in our blood in the form of an acid called phenylpyruvic acid. Yes, parents are limited in what they can give their child with this disease. You might have noticed a warning in the label of some diet sodas saying, Phenylketonurics: Contains Phenylalanine. The elevated levels of phenylalanine can cause damage to the developing brain of a child, resulting in brain damage and mental impairment. PKU is an incurable condition which when untreated can result in microcephaly (abnormally small head) and many mental disorders and intellectual disabilities. One question that I often get asked by people who read this webpage - "Is phenylalanine harmful to people that don't have PKU?". This list does not include every symptom. If your babys phenylalanine levels in their blood sample are high, your provider will administer additional tests to confirm the diagnosis and the type of PKU, normally with additional blood or urine tests. information highlighted below and resubmit the form. What happens to people that have it? 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? Treatment with medications and/or dietary changes help reduce symptoms. Federal regulations require that any beverage or food that contains aspartame bear this warning: "Phenylketonurics: Contains phenylalanine." There are different types of phenylketonuria (PKU) based on the severity of the diagnosis. information is beneficial, we may combine your email and website usage information with Those who only inherit the defect from one parent are PKU carriers and known asPKU heterozygotes. PKU formulas are special nutritional supplements that phenylketonurics might have to take for life. However, there has been fear that aspartame could represent a particular danger to these individuals. However, in order to develop PKU, an individual must inherit the defect from both parents. All rights reserved. Normally, the phenylalanine hydroxylase enzyme acts to convert phenylalanine to tyrosine. The results, down the road, can be devastating. Amino acids are molecules that form proteins. It is very rare, in the US an average of 1 in 15,000 babies is born with the disorder (this number varies from region to region). Doctors, other trusted medical professionals, and patient organizations may also be aware of studies. https://naturalmedicines.therapeuticresearch.com. It may include a special diet or medication. What is phenylketonuria (PKU)? How Long Do They Last? Vockley, J, et al. Phenylalanine is an amino acid. Patient organizations are available to help find a specialist for this condition. Reference: Data from the Newborn Screening Codingand Terminology Guide is available here. Are Phenylketonurics bad for you? Even if you dont have PKU, you should still go for genetic counseling if any of your close relatives have PKU. So it builds up to toxic levels. Phenylketonuria. This gene helps create the enzyme needed to break down phenylalanine. People with the condition lack the enzymephenylalanine hydroxylase, necessary to deal with the amino acid phenylalanine. Our bodies break down the protein in foods, such as meat and fish, into amino acids, which are the "building blocks" of protein. Get useful, helpful and relevant health + wellness information. PMCID: PMC7926728 DOI: 10.3390/nu13020707 Abstract Aspartame is a phenylalanine containing sweetener, added to foods and drinks, which is avoided in phenylketonuria (PKU). .st2 { Skin and/or hair discoloration (lighter compared to other members of their family). The adverse reactions that seem to be caused by aspertame sensitivity include headaches, muscle pains, skin rashes, hypertension, lethargy and heart palpitations. Some organizations build a community of patients and families impacted by a medical condition, like epilepsy, or related conditions, like heart problems, that may also be a symptom in other diseases. The main reason foods carry the PKU warning is our old friend aspartame, which weve written about here and here and elsewhere. health information, we will treat all of that information as protected health This enzyme is what your body uses to process Phe. Since PKU is a genetic condition, a genetic test can pinpoint the mutation responsible for symptoms. Phenylalanine is found in the body as part of normal biochemical pathways, but problems arise when levels are persistently higher than normal. Several people decide to stay away from diet sodas with this warning because they dont know what the word means. Tyrosine is needed to make melanin, which is the dark brown pigment in the body (skin, eyes). However, for people who have the genetic disorder phenylketonuria (PKU) or certain other health conditions phenylalanine can be a serious health concern. Weird, huh? Phenylketonurics have a genetic defect that makes their body unable to help create a vital enzyme. Eunice Kennedy Shriver National Institute of Child Health and Human Development. Please contact for permissions. Does soy really affect breast cancer risk? There is a problem with Phenylalanine will be contributing to the formation of melanin and its absence would mean that the hair color or the tone as well as the skin color would appear much paler. The gene affected, PAH, encodes phenylalanine hydroxylase, which converts phenylalanine to tyrosine (another amino acid) in the liver. Phenylketonuria. Well, lets start by clearing the air. Required fields are marked *, Copyright 2023 - AminoAcidsToday.com - All Rights Reserved. Healthcare providers confirm a diagnosis of phenylketonuria (PKU) shortly after birth as part of routine newborn screening via a blood test. However, people do not need all the phenyalanine they eat, so the body converts extra . Please feel free to send me an email: kineala@mac.com with comments/suggestions on your case or on improving this website. PKU varies from mild to severe. The most severe form is known as classic PKU. Phenylalanine is a substance the body uses to make other proteins that are needed for normal growth. Review/update the PKU (phenylkleptonuria). Once screened and detected, which usually occurs after 5 days or so, a baby with PKU must be put on a special low phenylalanine diet, which initially is a special formula made from beef serum. (adsbygoogle = window.adsbygoogle || []).push({}); Calorie Counter Australia (calcount) 2023, 471 Emulsifier (and Every Other Emulsifier). Phenylketonuria: Current treatments and future developments. It's possible for a parent to be a carrier to have the changed gene that causes PKU, but not have the disease. Each item has a certain amount of phenylalanine in it and she/he is allowed so much per day. 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. Babies born to women with high phenylalanine levels don't often inherit PKU. Phenylketonurics is a term that describes those who have PKU. Instead, it comes from the digestion of one type of artificial sweetener, called aspartame, that is used in some chewing gums for flavoring. https://www.uptodate.com/contents/search. Tim Tam Calories, Ingredients, and the infamous TimTamSlam, Kilojoules to Calories (kJ to Cal) Converter, Calorie Deficit Calculator (To Lose Weight). Cans Of Bernard Dehydrated Water: What in the World is This? This is why experts refer to this inheritance pattern as autosomal recessive. White Meats VS Red Meats, which is better? Phenylketonurics have a genetic defect that makes their body unable to help create a vital enzyme. They start developing symptoms when they are fed and phenylalanine enters their system. 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. Phenylketonurics is a term that describes those who have PKU. Accessed Jan. 28, 2022. Thats why babies in America are usually tested for PKU when they are born. This warning helps people with PKU avoid products that are a source of phenylalanine. So Phe can cause intellectual disability if they dont stay away from Phe (in protein foods like meat, egg, etc., as well as aspartame). It informs people with PKU that there is phenylalanine in the product. Phenylketonuria (PKU): Condition Information. 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"Phenylketonurics" is the term used to refer to people that have the metabolic disorder Phenylketonuria, or PKU for short. This results in Phe toxicity strong enough to severely damage the brain. I hope this webpage has answered some of the questions you originally went searching for regarding the scary-sounding warning: Phenylketonurics - Contains Phenylalanine! If your symptoms are caused by aspartame poisoning then you should feel better within this month. Accessed Jan. 28, 2022. the unsubscribe link in the e-mail. The artificial sweetener aspartame (Equal, NutraSweet), which is added to many medications, diet foods and diet sodas, contains phenylalanine. Well, this warning exists because phenylalanine is dangerous to some people who have a very rare disease known as phenylketonuria. When babies are born in the United States, a heel stick blood test is done to test for various disorders - PKU is one of the disorders that is tested for.