diabetestalk.net

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

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 >>

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 >>

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 >>

Phenylketonuria (pku)

Phenylketonuria (pku)

What Is It? Phenylketonuria (PKU) is a rare genetic (inherited) disorder that can cause abnormal mental and physical development if not detected promptly and treated appropriately. Normally, when a person eats foods that contain protein, special chemicals called enzymes break down these proteins into amino acids. The amino acids are then broken down further by other enzymes. A person with PKU does not have enough of the specific enzyme that breaks down the amino acid phenylalanine. Therefore, any phenylalanine in the food someone eats cannot be digested properly and collects in the body. Too much phenylalanine in the body causes problems with the brain and other organs. Damage from a buildup of phenylalanine can begin within the first month of life and, if undetected and/or untreated, PKU results in severe mental retardation, hyperactivity, and seizures. PKU affects about 1 baby in every 10,000 or 15,000 births. To be born with PKU, a baby has to have inherited the PKU gene from both parents. Most often, the parents do not know that they carry the gene. Symptoms Newborn babies with PKU do not show any symptoms. At about 3 to 6 months, babies with untreated PKU will begin to be less active. They show little interest in everything around them. By 1 year, the child may have severe developmental delays. Children with PKU have lower levels of melanin, the substance that gives color to hair and skin. That's because when phenylalanine is broken down, one of its products is used to make melanin. As a result, children with PKU often will have pale skin, blond hair and blue eyes. Dry skin; eczema; and a "musty" odor resulting from the buildup of phenylalanine in hair, skin and urine are also common. Other signs and symptoms may include irritability, muscle stiffness, seizures, a Continue reading >>

Metabolic Disorders: Pku, Msud, And Nutrition

Metabolic Disorders: Pku, Msud, And Nutrition

What are metabolic disorders? Metabolic disorders are genetic diseases that interfere with the body's ability to process specific substances. Often, the body is missing an enzyme that is needed to process a certain type of amino acid. As a result, these acids can build up in the body causing health problems. Many metabolic disorders need special dietary therapy. Dietary therapy is a way of limiting the intake of the substance the body does not process well by avoiding certain foods and eating a special diet. People with metabolic disorders need ongoing counseling and monitoring by a team of physicians, nurses, genetic counselors, social workers, and dietitians for improved health and longevity. PKU and MSUD Two common diet-affected metabolic disorders are PKU or phenylketonuria, and Maple Syrup Urine Disease (MSUD). Both conditions involve deficiency in an enzyme that breaks down an amino acid into another compound. This means that the essential amino acid tends to build up in the body, causing problems. Phenylketonuria (PKU) PKU is a complete absence or deficiency in phenylalanine hydroxylase (PAH), an enzyme involved in metabolizing or converting the amino acid phenylalanine into tyrosine, another amino acid. PAH deficiency results in high levels of blood phenylalanine and an accumulation of phenylketones in the urine. Partial deficiency of the enzyme results in hyperphenylalaninemia. In this condition, the child has elevated blood phenylalanine, although it is not quite as high as when there is a complete absence of PAH. In hyperphenylalaninemia, phenylketones do not accumulate. Unless it is recognized and treated soon after birth, PKU will cause brain damage. In the United States, PKU is most common in white and Native Americans and less common in African American, 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 >>

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 >>

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 >>

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 >>

Phenylketonuria

Phenylketonuria

Phenylketonuria Definition Phenylketonuria (PKU) can be defined as a rare metabolic disorder caused by a deficiency in the production of the hepatic (liver) enzyme phenylalanine hydroxylase (PAH). PKU is the most serious form of a class of diseases referred to as "hyperphenylalaninemia," all of which involve above normal (elevated) levels of phenylalanine in the blood. The primary symptom of untreated PKU, mental retardation, is the result of consuming foods that contain the amino acid phenylalanine, which is toxic to brain tissue. PKU is an inherited, autosomal recessive disorder. It is the most common genetic disease involving "amino acid metabolism." PKU is incurable, but early, effective treatment can prevent the development of serious mental incapacity. Description PKU is a disease caused by the liver's inability to produce a particular type of PAH enzyme. This enzyme converts (metabolizes) the amino acid called phenylalanine into another amino acid, tyrosine. This is the only role of PAH in the body. A lack of PAH results in the buildup of abnormally high phenylalanine concentrations (or levels) in the blood and brain. Above normal levels of phenylalanine are toxic to the cells that make up the nervous system and causes irreversible abnormalities in brain structure and function in PKU patients. Phenylalanine is a type of teratogen. Teratogens are any substance or organism that can cause birth defects in a developing fetus. The liver is the body's chief protein processing center. Proteins are one of the major food nutrients. They are generally very large molecules composed of strings of smaller building blocks or molecules called amino acids. About twenty amino acids exist in nature. The body breaks down proteins from food into individual amino acids and then reass 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 >>

Phenylketonuria (pku) - Aspartame

Phenylketonuria (pku) - Aspartame

Phenylketonuria (PKU) is a rare, inherited metabolic disease that results in mental retardation and other neurological problems when treatment is not started within the first few weeks of life. When a very strict diet is begun early and well-maintained, effected children can expect normal development and a normal life span. Elevations of blood phenylalanine are dangerous for those with PKU, and require treatment and modification. A child with a level less than 6 mg/dl does not need to be on a special diet and is not risk for mental retardation, but should avoid aspartame at all cost due to the 50% phenylalanine levels. Scientists have been able to show that carriers had higher phenylalanine levels in their urine than non-carriers. Phenylalanine Hydroxylase The disease arises from the absence of a single enzyme (phenylalanine hydroxylase). This enzyme normally converts the essential amino acid, phenylalanine, to another amino acid, tyrosine. Failure of the conversion to take place results in a buildup of phenylalanine. Through a mechanism that is not well understood, the excess phenylalanine is toxic to the central nervous system and causes the severe problems normally associated with PKU. Not every child has the same degree of enzyme deficiency, however; some have enough enzyme activity that the diet can be quite liberal, while others must have the very strict diet. The nature of the diet for an individual child must be determined by an experienced PKU treatment program. Phenylketonuria is carried through a "recessive" gene. The incidence of carriers in the general population is approximately one in fifty people. Although PKU affects only one out of every approximately 10,000 babies born in the US, there are several hundred babies diagnosed and put on a strict diet each 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 >>

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 >>

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 >>

More in ketosis