diabetestalk.net

A Person Diagnosed With Phenylketonuria (pku) Should Avoid Products Containing

Dealing With Phenylketonuria (pku)

Dealing With Phenylketonuria (pku)

PKU: An Amino Acid Disorder Amino acid disorders incidence excluding Phenylketonuria (PKU) in West Midland (1 in 5354) according to the study conducted in year (Sanderson et al, 2006). In British Columbia Amino acid disorder in Newborns is 24 in 100,000 births and 1/ 4,200 (Applegarth et al, January 2000) Prevalence The occurrence of PKU varies among ethnic groups and geographic regions worldwide. Local Prevalence In a study using newborn screening data from West Midlands region of England, PKU prevalence was not found to be significantly different among Pakistani and white children (∼ 0.7/10,000 vs ∼ 0.8/10,000), although the gene frequency was much lower in the Pakistani population (Hutchesson, 1998). Global Prevalence Babies in the United States are screened for PKU shortly after birth. The condition is uncommon in this country, only affecting about 1 in 10,000 to 15,000 newborns each year. PKU is more common in individuals with Irish, northern European, Turkish, or Native American ancestry. It is less common in people of African, Japanese, or Ashkenazi Jewish backgrounds. The incidence of PKU is approximately 1 in 12,000 Caucasians. It is less common in the African-American population, with an incidence of approximately 1 in 50,000 based on newborn screening data from the state of Maryland. PKU is rare in Finland and Japan (National Institutes of Health Consensus Development Panel). The overall birth prevalence of PKU in European, Chinese and Korean populations is approximately 1/10,000 (Pubmed: Hardelid et al. 2008) To www.rightdiagnosis.com, approximately 1 in 10,000 or 0.01% or 27,200 people in USA can counteract phenylketonuria. The estimate number per area ratio in Pakistan is 15,919 in 159, 196, 3362 as compared to that of 29,365 in 293, 655, 4051 of USA a Continue reading >>

Phenylketonuria

Phenylketonuria

Phenylketonuria (PKU) is a rare but potentially serious inherited disorder. Our bodies break down protein in foods like meat and fish into amino acids, which are the "building blocks" of protein. These amino acids are then used to make our own proteins. Any amino acids that aren't needed are broken down further and removed from the body. People with PKU can't break down the amino acid phenylalanine, which then builds up in the blood and brain. This can lead to brain damage. Diagnosing PKU At around 5 days old, babies are offered newborn blood spot screening to check if they have PKU or a number of other conditions. This involves pricking your baby's heel to collect drops of blood to test. If PKU is confirmed, treatment will be given straight away to reduce the risk of serious complications. Treatment includes a special diet and regular blood tests. With early diagnosis and the correct treatment, the majority of children with PKU are able to live healthy lives. About 1 in 10,000 babies born in the UK has PKU. Symptoms of PKU PKU doesn't usually cause any symptoms if treatment is started early. Without treatment, PKU can damage the brain and nervous system, which can lead to learning disabilities. Other symptoms of untreated PKU include: behavioural difficulties – such as frequent temper tantrums and episodes of self-harm fairer skin, hair and eyes than siblings without the condition (phenylalanine is involved in the body's production of melanin, the pigment responsible for skin and hair color) recurrent vomiting jerking movements in arms and legs musty smell on the breath, skin and urine Treating PKU Diet The main treatment for PKU is a low-protein diet that completely avoids high-protein foods (such as meat, eggs and dairy products) and controls the intake of many oth Continue reading >>

Phenylketonurics - Contains Phenylalanine

Phenylketonurics - Contains Phenylalanine

Have you ever looked at the label on a diet soda can and seen the warning: ? I personally know of several people who refuse to drink diet soda because the word "phenylketonurics" sounds too scary! What does "phenylketonurics" mean? Is it something you can catch from diet soda? Well, let me take the opportunity to answer these questions. "Phenylketonurics" is NOT something you can catch from diet soda! 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. "Phenylketonurics" is the term used to refer to people that have the metabolic disorder Phenylketonuria, or PKU for short. So - kind of like how the word "diabetics" refers to people that have "diabetes", "phenylketonurics" refers to the people that have "phenylketonuria". 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 . People that have the disorder PKU cannot consume any product that contains aspartame, for reasons which I will elaborate on below. 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? How do I know that I don't have PKU? 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. Phenylketonuria is a genetic metabolic disorder that results when the PKU gene is inherited from both parents. 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. It is ver Continue reading >>

Foods To Avoid On A Phenylketonuria Diet

Foods To Avoid On A Phenylketonuria Diet

Pheylketonuria (PKU) is a genetic disorder in which the body is not able to process an amino acid called phenylalanine, according to MedlinePlus.com. High levels of phenylalanine can damage the brain and lead to mental retardation. All babies born in the U.S. must have a screening test for PKU. Phenylalanine is mostly found in high-protein foods. High-protein foods should be avoided by patients with PKU. Video of the Day Fish, Poultry, Red Meat and Dairy Products Brain damage can be prevented if patients with PKU are treated with a special diet that is low in phenylalanine. In the PKU diet, animal protein is avoided because it contains the highest amounts of phenylalanine. Examples of animal protein to be avoided include red meat, fish, poultry and milk and milk products. PKU patients are to eat low-protein foods such as low-protein breads, pastas and cereals. Babies with PKU are often fed a special formula containing high protein and low phenylalanine. People with PKU who are on this special diet from birth or shortly thereafter develop normally and often have no symptoms of PKU, according to MedlinePlus.com. Dried Beans and Peas and Nuts Patients with PKU should avoid vegetable protein such as dried beans, peas and nuts as they contain high amounts of phenylalanine, according to MedlinePlus. Examples of nuts to avoid include almonds, hazelnuts, peanuts, chestnuts, pistachios, walnuts, cashewnuts, pecans and macadamias. PKU patients are usually advised to eat a lot of fruits and vegetables because they contain little phenylalanine. Patients with PKU should avoid products containing the artificial sweetener aspartame, according to MedlinePlus. When digested, aspartame produces amounts of phenylalanine considered dangerous to PKU patients. Examples of products that may c Continue reading >>

Phenylalanine Hydroxylase Deficiency: Diagnosis And Management Guideline

Phenylalanine Hydroxylase Deficiency: Diagnosis And Management Guideline

Phenylalanine hydroxylase deficiency, traditionally known as phenylketonuria, results in the accumulation of phenylalanine in the blood of affected individuals and was the first inborn error of metabolism to be identified through population screening. Early identification and treatment prevent the most dramatic clinical sequelae of the disorder, but new neurodevelopmental and psychological problems have emerged in individuals treated from birth. The additional unanticipated recognition of a toxic effect of elevated maternal phenylalanine on fetal development has added to a general call in the field for treatment for life. Two major conferences sponsored by the National Institutes of Health held >10 years apart reviewed the state of knowledge in the field of phenylalanine hydroxylase deficiency, but there are no generally accepted recommendations for therapy. The purpose of this guideline is to review the strength of the medical literature relative to the treatment of phenylalanine hydroxylase deficiency and to develop recommendations for diagnosis and therapy of this disorder. Evidence review from the original National Institutes of Health consensus conference and a recent update by the Agency for Healthcare Research and Quality was used to address key questions in the diagnosis and treatment of phenylalanine hydroxylase deficiency by a working group established by the American College of Medical Genetics and Genomics. The group met by phone and in person over the course of a year to review these reports, develop recommendations, and identify key gaps in our knowledge of this disorder. Above all, treatment of phenylalanine hydroxylase deficiency must be life long, with a goal of maintaining blood phenylalanine in the range of 120–360 µmol/l. Treatment has predominant Continue reading >>

Meal Plan / Pku Diet For Children With Phenylketonuria

Meal Plan / Pku Diet For Children With Phenylketonuria

Phenylketonuria (PKU) is a rare inherited condition in which there is a build up of the amino acid phenylalanine in the body. PKU is tested for at birth of newborns by measuring phenylalanine levels in the heel-prick blood test. All babies should have this test as it allows treatment to start early in life. High levels of phenylalanine are toxic to the brain, and will affect brain development, and the PKU sufferer will develop learning and behavioural difficulties. However, PKU is a treatable condition. Phenylalanine is found in the protein part of the food we eat and the treatment is a low protein diet. This means that high protein foods such as meat, cheese, poultry, eggs and milk are not permitted. Instead the diet is supplemented with specially formulated protein sources which contain no phenylalanine. This diet is very effective at lowering levels of phenylalanine and allows normal growth and development of the child. Basic principles of the diet Treatment consists of a diet containing only the amount of phenylalanine which is essential for growth and development. Meat, fish, cheese, eggs and nuts are rich in protein and therefore phenylalanine so they are not allowed. Other foods which contain some protein such as potato, milk and cereals are given in small measured quantities so that the blood phenylalanine, which is measured regularly, is kept within safe limits. These measured foods are spread out between the day's meals. The quantities allowed will vary from person to person. Most fruit, some vegetables and salads can be taken in normal quantities but avoid excess use. Sugar, jam, syrups, and fats such as butter, lard and cooking oil can be used freely. There are many manufactured foods which are low in protein and are available on prescription for the person Continue reading >>

What Is The Diet For Pku?

What Is The Diet For Pku?

What is Included in a Low Phenylalanine Food Pattern? The diet for PKU consists of a phenylalanine-free medical formula and carefully measured amounts of fruits, vegetables, bread, pasta, and cereals. Many people who follow a low phenylalanine (phe) food pattern eat special low protein breads and pastas. They are nearly free of phe, allow greater freedom in food choices, and provide energy and variety in the food pattern. What is Not Included in a Low Phenylalanine Food Pattern? Foods that contain large amounts of phe must be eliminated from a low phe diet. These foods are high protein foods, such as milk, dairy products, meat, fish, chicken, eggs, beans, and nuts. These foods cause high blood phe levels for people with PKU. Aim for healthy food choices This target is an easy way to visualize the foods allowed on the diet for PKU. The phenylalanine-free formula, such as Phenyl-Free*, is the center of the target diet. As the foods get further away from the bull's-eye, they are higher in phenylalanine. The foods outside the target are not included in the low-phenylalanine meal plan. How Can This Food Pattern be Enough? It is not unusual for someone who follows a low phe diet to have 2 kinds of vegetables and a baked potato for dinner. However, if these foods were the only foods a person consumed, his or her diet would be lacking protein, vitamins, and minerals. That is where the special formula comes in. A special phenylalanine-free formula, such as Phenyl-Free*, contains protein, vitamins, minerals and energy (calories) with no phenylalanine. With formula, a person with PKU gets plenty of protein, without the side effects of the high phe content of most foods. The phenylalanine-free formula is the most important part of the diet for PKU. How Long Must a Person With PKU F Continue reading >>

Phenylketonuria

Phenylketonuria

Phenylketonuria (PKU) is inherited, which means it is passed down through families. Both parents must pass on a nonworking copy of the gene in order for a baby to have the condition. Babies with PKU are missing an enzyme called phenylalanine hydroxylase, which is needed to break down the essential amino acid phenylalanine. Phenylalanine is found in foods that contain protein. Without the enzyme, levels of phenylalanine build up in the body. This buildup can harm the central nervous system and cause brain damage. Continue reading >>

Diagnosis

Diagnosis

Print Newborn blood testing 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. If you have PKU or a family history of it, your doctor may recommend screening tests before pregnancy or birth. It's possible to identify PKU carriers through a blood test. Testing your baby after birth A PKU test is done a day or two after your baby's birth. The test isn't done before the baby is 24 hours old or before the baby has ingested some protein in the diet to ensure accurate results. A nurse or lab technician collects a few drops of blood from your baby's heel or the bend in your baby's arm. A laboratory tests the blood sample for certain metabolic disorders, including PKU. If you don't deliver your baby in a hospital or are discharged soon after the birth, you may need to schedule a newborn screening with your pediatrician or family doctor. If this test indicates your baby may have PKU: Your baby may have additional tests to confirm the diagnosis, including more blood tests and urine tests You and your baby may undergo genetic testing to identify gene mutations Treatment The main treatment for phenylketonuria includes: A lifetime diet with very limited intake of protein, because foods with protein contain phenylalanine Taking a PKU formula — a special nutritional supplement — for life to make sure you get enough essential protein (without phenylalanine) and nutrients that are crucial for growth and general health 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 normal growth and body processes, but no more. Your doctor ca Continue reading >>

Genetic Fact Sheets For Parents

Genetic Fact Sheets For Parents

Disorder name: Phenylketonuria Acronym: PKU This fact sheet contains general information about PKU. Every child is different and some of these facts may not apply to your child specifically. Certain treatments may be advised for some children but not others. All children with PKU should be followed by a metabolic doctor in addition to their primary care provider. If your newborn has had a ‘presumptive positive screen for PKU’ as a result of newborn screening, it does not yet mean that he or she has PKU. There are other tests that need to be done to confirm whether your baby actually has PKU. Some babies are found not to have PKU and do not need treatment. Others are found to have a milder condition called “hyperphenylalaninemia” - also called ‘hyperphe’ or ‘non-PKU HPA.’ Many children with non-PKU HPA do not need treatment. There is also another form of non-PKU HPA that is treated with a medication called BH4 (tetrahydrobiopterin). This condition is rare (less than 2% of cases). Blood and urine tests can be done to determine whether your child has this form of non-PKU hyperphe. This fact sheet contains information about classic PKU only. Therefore, the details below are relevant only to babies who have been confirmed to have classic PKU. It does not contain information on non-PKU HPA or other variants. What is PKU? PKU stands for “phenylketonuria”. It is one type of amino acid disorder. People with PKU have problems breaking down an amino acid called phenylalanine from the food they eat. Amino Acid Disorders: Amino acid disorders (AAs) are a group of rare inherited conditions. They are caused by enzymes that do not work properly. Protein is made up of smaller building blocks called amino acids. A number of different enzymes are needed to process thes Continue reading >>

Strategies Used In Production Of Phenylalanine-free Foods For Pku Management

Strategies Used In Production Of Phenylalanine-free Foods For Pku Management

Abstract Phenylketonuria (PKU) is one of the most widespread dysfunctions caused by an inheritable problem in the phenylalanine metabolism. In this metabolic disease, gene mutations in phenylalanine hydroxylase (PAH) result in phenylalanine accumulation that causes varying degrees of mental retardation. The most effective treatment is restriction of phenylalanine in diet provided through different strategies including combination of low-protein foods, hydrolyzing of protein-rich foods, or use of protein substitutes. Meat and meat products, sea foods, milk and infant formula, cereal products, and beans are among the modified foods for PKU management. Elimination of phenylalanine from food presents major technological, nutritional, and organolleptic challenges because protein, as an essential structure-building and nutritional element, is removed. In addition, following this program is laborious, boring, and restrictive for both patients and their families. This paper reviews the current findings about PKU and the recent developments in the production of phenylalanine-free foods. Also, the nutritional requirements and challenges encountered by PKU individuals and food technologists are finally discussed. Introduction The prevalence of phenylketonuria (PKU) as one of the highest incidence-inherited metabolic disorders is about one in 10000 to 20000 in many parts of the world (Sullivan and Chang 1999). Although PKU is not an ethnic disease, it has had a lower prevalence among African and Hispanic descents (Donlon and others 2007). The number of individuals with treated PKU is estimated at 50000 worldwide (van Calcar and Ney 2012). PKU and a related form of the less harmful hyperphenylalaninemia (HPA, termed non-PKU-HPA) are both caused by an impaired activity of phenylalani Continue reading >>

What Are Common Treatments For Phenylketonuria (pku)?

What Are Common Treatments For Phenylketonuria (pku)?

There is no cure for PKU, but treatment can prevent intellectual disabilities and other health problems.1 A person with PKU should receive treatment at a medical center that specializes in the disorder. (Visit the Resources and Publications section for ways to locate a center.) The PKU Diet People with PKU need to follow a diet that limits foods with phenylalanine. The diet should be followed carefully and be started as soon after birth as possible. In the past, experts believed that it was safe for people to stop following the diet as they got older. However, they now recommend that people with PKU stay on the diet throughout their lives for better physical and mental health.1,2 It is especially important for a pregnant woman with PKU to strictly follow the low-phenylalanine diet throughout her pregnancy to ensure the healthy development of her infant.3 People with PKU need to avoid various high-protein foods, including: Milk and cheese Eggs Nuts Soybeans Beans Chicken, beef, or pork Fish Peas Beer People with PKU also need to avoid the sweetener aspartame, which is in some foods, drinks, medications, and vitamins. Aspartame releases phenylalanine when it is digested, so it raises the level of phenylalanine in a person's blood.1 Often, people with PKU also have to limit their intake of lower-protein foods, such as certain fruits and vegetables. However, a PKU diet can include low-protein noodles and other special products. The amount of phenylalanine that is safe to consume differs for each person. Therefore, a person with PKU needs to work with a health care professional to develop an individualized diet. The goal is to eat only the amount of phenylalanine necessary for healthy growth and body processes but not any extra. Frequent blood tests and doctor visits are nec Continue reading >>

Pku (phenylketonuria) In Your Baby

Pku (phenylketonuria) In Your Baby

Phenylketonuria (also called PKU) is a condition in which your body can’t break down an amino acid called phenylalanine. Amino acids help build protein in your body. Without treatment, phenylalanine builds up in the blood and causes health problems. In the United States, about 1 in 10,000 to 15,000 babies is born with PKU each year. The illness happens in all ethnic groups. But it’s more common in people who are Native American and Northern European than those who are African-American, Ashkenazi Jewish or Japanese. PKU is inherited. This means it’s passed from parent to child through genes. A gene is a part of your body’s cells that stores instructions for the way your body grows and works. Genes come in pairs—you get one of each pair from each parent. Sometimes the instructions in genes change. This is called a gene change or a mutation. Parents can pass gene changes to their children. Sometimes a gene change can cause a gene to not work correctly. Sometimes it can cause birth defects or other health conditions. A birth defect is a health condition that is present in a baby at birth. Your baby has to inherit a gene change for PKU from both parents to have PKU. If she inherits the gene from just one parent, she has the gene change for PKU, but she doesn’t have PKU. When this happens, your baby is called a PKU carrier. A PKU carrier has the gene change but doesn’t have PKU. How do you know if your baby has PKU? All babies have a newborn screening test for PKU. Newborn screening checks for serious but rare conditions at birth. It includes blood, hearing and heart screening. With newborn screening, PKU can be found and treated early so babies can grow up healthy. Before your baby leaves the hospital, his health care provider takes a few drops of blood from hi Continue reading >>

Aspartame

Aspartame

Sweeteners and all other food additives are tightly regulated and may only be used once their safety has been rigorously assessed. Aspartame was first approved in the UK in 1982 following the review of its safety by the UK's Committee on Toxicity, Consumer Products and the Environment (COT), a committee of independent experts that advises the Government on the safety of food chemicals. This was reaffirmed in 1988 by the European Commission's former Scientific Committee on Food (SCF). Following the publication of a number of anecdotal reports, which cast doubt on the safety of this sweetener, the SCF reviewed more than 500 papers published in the scientific literature between 1988 and 2001 on the safety of aspartame, including studies supporting the safety of aspartame and others pointing to potential adverse effects, which concluded, in 2002, that there was no evidence to suggest a need to revise the outcome of their earlier risk assessment or the Acceptable Daily Intake (ADI) previously established for aspartame of 40 milligrams per kilogram of body weight per day (40 mg/kg bw/day). A study published by the Ramazzini Foundation in Bologna, Italy, in July 2005 claimed to have shown that rats given dosages of aspartame equivalent to the Acceptable Daily Intake (ADI) may develop tumours. EFSA assessed the study and raised a number of concerns regarding it. They concluded, that ‘there is no need to further review the safety of aspartame nor to revise the previously established ADI'. The FSA supported the conclusions of EFSA's review but reiterated that all approvals of food additives should be kept under review as and when new scientific information becomes available. Indeed, as part of its systematic re-evaluation of all food additives, EFSA has re-evaluated the safety Continue reading >>

Diet Intervention Guidelines For Adults With Untreated Pku

Diet Intervention Guidelines For Adults With Untreated Pku

by Barbara E. Dolan, RN, MSN Nurse Counselor for Genetics, Redwood Coast Regional Center, Ukiah, CA Richard Koch, MD Division of Medical Genetics, Children’s Hospital of Los Angeles and The Department of Pediatrics, University of Southern California, School of Medicine, Los Angeles, CA Christina Bekins, MS, RD Nutrition Consultant, Calistoga, CA Virginia Schuett, MS, RD Nutritionist and Director, National PKU News, Seattle, WA Acknowledgments The authors applaud the “outreach clinic model” staffed by specialists including Richard Goldwasser, MD, psychiatrist. We wish to thank Kathleen Schmidt Yule, RN, MS, UCS, NBS Program; Kathleen Dall, RD, Scientific Hospital Supplies, Inc.; The Inherited Metabolic Disease Clinic, Denver, CO; and Steven Yannicelli, MMSc, RD and Phyllis Acosta, PhD, RD, Ross Laboratories for their interest and guidance in the beginning months of this project. We are grateful for the interest, confidence and love of adult care providers and their families, and for their willingness to collaborate and share with us. Note: Before applying any of the information contained in these guidelines to treatment of PKU, you must consult with a PKU specialist. The guidelines do not give advice or recommendations for individuals, whose unique medical, nutritional, and other needs must be considered. Contents Introduction Overcoming Obstacles to Treatment: Obtaining Information, Guidance, and SupportStarting and Maintaining the Low PHE Diet for Adults Other Treatment Considerations Diet Resources Appendix Sample Menus (will be available at a later date on the PKU News web site) Introduction Purpose and Approach of the Guidelines The purpose of these guidelines is to present an organized way to start and maintain a phenylalanine (PHE)-restricted diet for a prev Continue reading >>

More in ketosis