Doctors, other trusted medical professionals, and patient organizations may also be aware of studies.To determine whether a study may be appropriate: How do you find the right clinical study? Well, let me take the opportunity to answer these questions. 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. I myself, am one of these phenylketonurics and the warning on diet soda cans is included merely to inform people like me that the product contains the synthetic chemical ASPARTAME . Cleveland Clinic Community Care puts patients first by offering comprehensive, coordinated, personalized healthcare. 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. Have you ever looked at the label on a diet soda can and seen the warning: Phenylketonurics - contains phenylalanine? Phenylketonuria (PKU): Other FAQs. Phenylketonuria (PKU). https://rarediseases.info.nih.gov/diseases/7383/phenylketonuria. Children and adults also need to avoid certain other foods and beverages, including many diet sodas and other drinks that contain aspartame (NutraSweet, Equal). 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. Without treatment, children with classic PKU develop permanent intellectual disability. When your body cant process the amino acids that you eat in your diet, they build up in your blood and tissues. The damage caused to the brain tissues will result in defective signal transmission and brain function which will lead to learning difficulties. Mayo Clinic. 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. Classic phenylketonuria. Organizations specific to this condition are available to help find support. The warning is directed at this unfortunate group of people, because they need to limit their intake of phenylalanine. Excessive phenylalanine can be metabolized into phenylketones through the minor route, a transaminase pathway with glutamate.Metabolites include phenylacetate, phenylpyruvate and phenethylamine. A single copy of these materials may be reprinted for noncommercial personal use only. 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). Nervous system diseases are usually diagnosed and treated by neurologists. Aspartame in large doses can cause a rapid increase in brain levels of phenylalanine. Healthcare providers confirm a diagnosis of phenylketonuria (PKU) shortly after birth as part of routine newborn screening via a blood test. Defective genes cant make enough enzymes to process Phe. Get useful, helpful and relevant health + wellness information. The condition inherits as an autosomal recessive condition or a condition which manifests only when both parents are carriers of the defective gene. 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? Reference: Data from the Newborn Screening Codingand Terminology Guide is available here. However, for foods which are artificially formulated with phenylalanine-containing ingredients, it becomes necessary to give Phenylketonurics the heads-up. Problems with memory, senses, or mood may also occur. All individuals inherit two copies of most genes. They have a 50% chance of having an unaffected child who also is a carrier (middle). This means phenylalanine builds up in the person's blood, urine, and body. Recessive means that both copies of the responsible gene must have a disease-causing change (pathogenic variant) in order for a person to have the disease. In a person with PKU, a change in the phenylalanine hydroxylase (PAH) gene causes a lack of or reduced amount of the enzyme that's needed to process phenylalanine, an amino acid. Genes, like chromosomes, usually come in pairs. The brain of a child is still developing. 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. Some researchers claim that the amino acid phenylalanine is a natural muscle relaxer and sleep aid. The artificial sweetener aspartame (Equal, NutraSweet), which is added to many medications, diet foods and diet sodas, contains phenylalanine. You might have noticed a warning in the label of some diet sodas saying, Phenylketonurics: Contains Phenylalanine. Additionally, phenylalanine is found in aspartame, the sweetener found in most diet soft drinks and sugar-free candies/gum - hence the need for the warning on the labels of these products. BioMarin Pharmaceuticals, Inc.; 2020. https://www.palynziq.com/. Body Fat Percentage Calculator (for Women and Men), Optislim! 9500 Euclid Avenue, Cleveland, Ohio 44195 |, (https://www.genome.gov/Genetic-Disorders/Phenylketonuria), (https://medlineplus.gov/genetics/condition/phenylketonuria/), (https://rarediseases.org/rare-diseases/phenylketonuria/). You'll soon start receiving the latest Mayo Clinic health information you requested in your inbox. This gene helps create the enzyme needed to break down phenylalanine. Sometimes, a child might inherit defective genes from parents. https://www.fda.gov/Food/IngredientsPackagingLabeling/FoodAdditivesIngredients/ucm397725.htm#Aspartame. Current clinical studies can be found by using ClinicalTrials.gov(see below). In addition, keep the Phenylketonuria diet simple, using lots of fresh fruit and vegetables and little or no preservatives. However, this natural amino acid is found in an isolated, processed form in aspartame, the artificial sweetener used in NutraSweet, Equal and some diet sodas, as well as a number of other products. Mayo Clinic does not endorse companies or products. But, if this was not possible, such babies will develop signs and symptoms related to the disease in few months time. I personally know of several people who refuse to drink diet soda because the word "phenylketonurics" sounds too scary! UMLSVocabulary Standards and Mappings Downloads, Access aggregated data from Orphanet at Orphadata, National Center for Biotechnology Information's, Newborn Screening Coding and Terminology Guide, Improving newborn screening laboratory test ordering and result reporting using health information exchange, Health Literacy Online: A Guide for Simplifying the User Experience, U.S. Department of Health & Human Services, National Center for Advancing Translation Sciences, Ways to connect to others and share personal stories, Latest treatment and research information, Lists of specialistsor specialty centers, Discuss the clinical study with a trusted medical provider before enrolling, Review the "Study Description," which discusses the purpose of the study, and"Eligibility Criteria," whichlists who can and cannot participate in the study, Work with the research coordinator to review the written informed consent, including the risks and benefits of the study, Inquire about the specific treatments and procedures, location of the study, number of visits, and time obligation, Determine whether health insurance is required and whetherthere are costs to the participant for the medical care, travel, and lodging, Ask questions. Mild hyperphenylalaninemia (least severe). These supplements will give you the essential proteins you need without phenylalanine. Later, high protein foods must be restricted, along with certain other phenylalanine-containing foods, which includes anything containing aspartame. Phenylketonuria, or PKU for short, is an inherited condition that affects about one in 15,000 people. PKU (phenylkleptonuria). Children who inherit the disease, will be having a defective enzyme that is suppose to metabolize this amino acid and thus would not be able to keep the phenylalanine levels within the safe and at necessary levels. Phenylketonuria (PKU): Condition Information. So when you see that warning on soda cans, it is for people who have PKU. include protected health 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. Protein-rich foods usually contain lots of Phe. 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. Accessed Jan. 28, 2022. It is usually diagnosed at birth by a heal prick test known as the Guthrie test. time. information is beneficial, we may combine your email and website usage information with Research also helps doctors better understand how well a treatment works and can lead to new treatment discoveries. Zeratsky KA (expert opinion). Based on the number of emails I have received from people like yourself, I believe that the effects of aspartame toxicity are more common than people realize. For all of us, there is a significantly higher amount of phenylalanine, aspartic acid, and methanol from the rest of our diet than there is from aspartame. The results, down the road, can be devastating. To have an autosomal recessive disorder, you inherit two changed genes, sometimes called mutations. Bodamer OA. This is why experts refer to this inheritance pattern as autosomal recessive. The condition of phenylketonurics usually varies in severity. Accessed Nov. 14, 2018. Well, if you have reached an age where you have the desire to drink diet soda and you still have the mental capacity to question whether or not you have PKU, the odds are that you don't have the disorder. Amsterdam: Elsevier / Academic, 2009. Those who only inherit the defect from one parent are PKU carriers and known asPKU heterozygotes. Out of 500 babies which do test positive for PKU on the first test, on average only one will actually have the disorder. People that have the disorder PKU cannot consume any product that contains aspartame, for reasons which I will elaborate on below. PMCID: PMC7926728 DOI: 10.3390/nu13020707 Abstract Aspartame is a phenylalanine containing sweetener, added to foods and drinks, which is avoided in phenylketonuria (PKU). *Growth retardation which will be demonstrated by stunting, *Poor growth of the head which leads to microcephaly. Diet Coke (Calories, Ingredients Compared). Seizures (rare). Zeratsky KA (expert opinion). .st1 { PKU is an inherited disorder that makes a person unable to digest the amino phenylalanine (Phe). What is phenylketonuria (PKU)? Although missions of organizations may differ, services may include, but are not limited to: What do disease-specific organizations do? I personally know of several people who refuse to drink diet soda because the word "phenylketonurics" sounds too scary! Or a condition which manifests only when both parents are carriers of the head which leads to microcephaly, ;... Large doses can cause a rapid increase in brain levels of phenylalanine coordinated personalized... 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