Materiały źródłowe

• #1 Phenylketonuria (PKU) – Symptoms and causes – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/phenylketonuria/symptoms-causes/syc-20376302

  Phenylketonuria (fen-ul-key-toe-NU-ree-uh), also called PKU, is a rare inherited disorder that causes an amino acid called phenylalanine to build up in the body. PKU is caused by a change in the phenylalanine hydroxylase (PAH) gene. This gene helps create the enzyme needed to break down phenylalanine. […] For the rest of their lives, people with PKU babies, children and adults need to follow a diet that limits phenylalanine, which is found mostly in foods that contain protein. […] 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. […] Regardless of the form, most infants, children and adults with the disorder still require a special PKU diet to prevent intellectual disability and other complications.

• #2 Phenylketonuria (PKU): Practice Essentials, Background, Pathophysiology

  https://emedicine.medscape.com/article/947781-overview

  Phenylketonuria (PKU), less commonly known as phenylalanine hydroxylase (PAH) deficiency, is the most common inborn error of amino acid metabolism, arising from bi-allelic pathogenic variants in the gene that encodes PAH. A deficiency of the enzyme phenylalanine hydroxylase (PAH) impairs the body’s ability to metabolize the essential amino acid phenylalanine into tyrosine in the proximal step of the metabolic pathway. This leads to accumulation of phenylalanine in body fluids, and decreased tyrosine. Persistently elevated phenylalanine levels lead to profound and irreversible intellectual disability; other disease manifestations across the lifespan in an untreated individual may include epilepsy, eczema, musty body odor, behavioral issues, decreased skin and hair pigmentation, and Parkinson-like features. With appropriate treatment and careful protein restriction from early infancy, individuals with PKU develop typical intellectual functioning.

• #3 Phenylketonuria (PKU) – Diagnosis and treatment – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/phenylketonuria/diagnosis-treatment/drc-20376308

  Newborn screening 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. […] A PKU test is done a day or two after your baby’s birth. For accurate results, the test is done after your baby is 24 hours old and after your baby has had some protein in the diet. […] Starting treatment early and continuing treatment throughout life can help prevent intellectual disability and major health problems. […] The main treatments for PKU include: A lifetime diet with very limited intake of foods with phenylalanine; Taking a PKU formula a special nutritional supplement for life to make sure that you get enough essential protein (without phenylalanine) and nutrients that are essential for growth and general health; Medications, for certain people with PKU.

• #4 Phenylketonuria: Symptoms, tests, and treatment

  https://www.medicalnewstoday.com/articles/317963

  Phenylketonuria, commonly known as PKU, is a genetic condition that affects how the amino acid, phenylalanine, is broken down by the body. […] PKU affects around 1 in 10,000 to 15,000 babies in the United States each year and is commonly diagnosed shortly after birth. […] PKU is an inherited, genetic condition that is passed from both parents to their children when the genes are mutated or changed. […] PKU can be present in mild or severe versions of the disease. Those with mild forms of PKU are able to process phenylalanine to a small degree. In severe cases of what is referred to as classic PKU, there is very little if any phenylalanine hydroxylase working in the body. […] If left untreated, PKU can cause toxic and harmful levels of phenylalanine within the body. These high levels of phenylalanine can pose serious and irreversible health problems, such as permanent intellectual disabilities, developmental delays, behavioral or psychiatric issues, seizures, and other complications.

• #5 Phenylketonuria (PKU) – Symptoms and causes – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/phenylketonuria/symptoms-causes/syc-20376302

  Phenylketonuria (fen-ul-key-toe-NU-ree-uh), also called PKU, is a rare inherited disorder that causes an amino acid called phenylalanine to build up in the body. PKU is caused by a change in the phenylalanine hydroxylase (PAH) gene. This gene helps create the enzyme needed to break down phenylalanine. […] For the rest of their lives, people with PKU babies, children and adults need to follow a diet that limits phenylalanine, which is found mostly in foods that contain protein. […] 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. […] Regardless of the form, most infants, children and adults with the disorder still require a special PKU diet to prevent intellectual disability and other complications.

• #6 Eunice Kennedy Shriver National Institute of Child Health and Human Development – NICHD

  http://www.nichd.nih.gov/health/topics/factsheets/pku

  Children with PKU who are not treated may develop symptoms including behavioral problems, seizures, and severe intellectual and developmental disabilities (IDDs). […] Pregnant women with PKU who do not strictly follow a low-phenylalanine diet may give birth to a child with serious problems, including IDDs, a head that is too small (microcephaly), heart defects, and low birth weight.

• #7 Phenylketonuria Nursing Care Planning and Management

  https://nurseslabs.com/phenylketonuria/

  Nurses play an essential role in early detection through newborn screening, supporting families in managing the strict phenylalanine-restricted diet, and monitoring phenylalanine levels to prevent complications. […] Nursing care for a child with PKU involves the following: […] Assessing a child with PKU should include: […] Based on the assessment data, the major nursing diagnoses are: […] The nursing care planning goals for a child with phenylketonuria are: […] The nursing interventions for a child with PKU are: […] Goals are met as evidenced by: […] Documentation in a child with PKU includes:

• #8 Phenylketonuria (PKU) – Other Pediatric Disorders – Pediatric Nursing for Nursing RN

  https://www.picmonic.com/pathways/nursing/courses/standard/pediatric-nursing-372/other-pediatric-disorders-513/phenylketonuria-pku_2240

  Phenylketonuria (PKU) is an autosomal recessive genetic disorder characterized by the deficiency of an enzyme necessary for phenylalanine metabolism. The Guthrie Blood Test is a newborn screening tool critical in diagnosing PKU. The condition may present with frequent vomiting, irritability, cognitive impairment, and a distinctive musty odor. Treatment includes maintaining a low-phenylalanine diet by avoiding foods containing aspartame or protein. In combination with the PKU diet, the medication sapropterin (Kuvan) may help improve tolerance of phenylalanine ingestion. […] Phenylketonuria is caused by the deficiency of an enzyme required to metabolize the essential amino acid phenylalanine. […] Since PKU is not inherited, infants may experience failure to thrive since they cannot effectively metabolize the high amounts of phenylalanine present in the mother’s blood. Symptoms include low birth weight, an abnormally small head, and frequent vomiting.

• #9 Phenylketonuria (PKU) – Other Pediatric Disorders – Pediatric Nursing for Nursing RN

  https://www.picmonic.com/pathways/nursing/courses/standard/pediatric-nursing-372/other-pediatric-disorders-513/phenylketonuria-pku_2240

  A low-phenylalanine diet helps prevent brain damage leading to intellectual disability. Infants are given special formulas, such as phenex and lofenalac, that are low in phenylalanine while providing essential protein and nutrients for normal growth. As the patient matures, a diet low in protein and aspartame is recommended. […] Patients with PKU should consume low protein foods. Natural sources of dietary protein, such as meat, eggs, dairy products, and nuts contain high amounts of phenylalanine, and thus cannot be metabolized. […] Digested aspartame releases phenylalanine into the bloodstream. Instruct the patient to avoid artificial sweeteners, such as NutraSweet and Equal. The patient should also avoid diet soda and drinks containing aspartame. […] Sapropterin (Kuvan), or BH4, is a medication indicated to increase tolerance of phenylalanine ingestion. Since Kuvan is a new drug, the FDA is conducting ongoing studies to evaluate the medication’s efficiency. For optimal results, the drug is indicated to be used with the PKU diet. […] Immediate detection and intervention of PKU is critical for preventing major health problems. The Guthrie Blood Test is a newborn screening tool used after the infant is 24 hours old and has ingested dietary protein.

• #10 Phenylketonuria (PKU) | Texas DSHS

  https://www.dshs.texas.gov/newborn-screening-program/newborn-screening-parent-resources/phenylketonuria-pku

  Severe intellectual disabilities and other problems resulting from PKU can be prevented by early diagnosis and proper diet control. […] PKU cannot be cured but can be treated if a special diet is started early in the newborn period. Current research indicates that the special diet should be continued at least through adolescence and possibly throughout life. […] The special PKU diet provides all protein, calories, vitamins and minerals needed for normal growth and development. […] It is very important that the special PKU diet be carefully followed at all times. […] Successful management of PKU involves not only the parents and physician but requires the cooperation of everyone who comes in contact with the child, including relatives, neighbors, friends, babysitters, teachers, and physicians.

• #11 Phenylketonuria (PKU) | Boston Children’s Hospital

  https://www.childrenshospital.org/conditions/phenylketonuria-pku

  Our dedicated team of physicians, dietitians, nurse practitioners, nurse, social workers, psychologists, and biochemical genetics laboratory specialists are committed to supporting people with this highly treatable condition. PKU requires lifelong care, and our multidisciplinary team will work with you to achieve the best health available. […] The PAL Clinic cares for patients with phenylketonuria (PKU) who want to receive enzyme therapy.

• #12 Phenylketonuria

  https://www.nhs.uk/conditions/phenylketonuria/

  A dietitian will create a detailed dietary plan for your child that can be revised as your child grows and their needs change. […] As long as a person with PKU sticks to a low-protein diet throughout childhood, and their phenylalanine levels stay within certain limits, they’ll remain well and their brain function should be unaffected. […] People with PKU must also avoid food products that contain aspartame, as it’s converted into phenylalanine in the body. […] A child with phenylketonuria will need regular blood tests to measure levels of phenylalanine in their blood and assess how well they’re responding to treatment. […] It’s recommended that children who are: 1 year or younger should have their blood tested once a week; between 1 and 12 years should have their blood tested every 2 weeks; over 12 years should have their blood tested once a month.

• #13 Phenylketonuria (PKU) | Nursing Times

  https://www.nursingtimes.net/archive/phenylketonuria-pku-29-07-2003/

  – It is recommended that people with PKU follow the special diet for life. […] – If a child’s phenylalanine control is kept within the acceptable range, growth and development will not be affected. Therefore, extra developmental assessments should not be required. […] – After diagnosis the family may need extra support in coping with shock, anxiety or stress. […] – It is important that dietary advice is consistent. The child’s dietitian should, therefore, be the only person giving advice.

• #14 Phenylketonuria (PKU) | Lurie Children’s

  https://www.luriechildrens.org/en/specialties-conditions/phenylketonuria/

  In patients with PKU, the PAH does not work properly. […] Phenyketonuria is treated with a special diet and formula. […] Infants, children and adults with PKU are placed on a diet that limits the amount of protein (and therefore Phe) that they eat and drink. […] In addition, patients with PKU must also drink a special medical formula. […] All forms of PKU treatment require regular blood testing to check blood Phe levels. […] At Lurie Childrens, PKU is treated by a team of health care providers that includes a doctor or nurse practitioner, registered nurses (RNs), dietitians, a social worker and genetic counselor. […] We provide comprehensive care from the first clinic visit through the transition to adult care.

• #15 Phenylketonuria

  https://www.nhs.uk/conditions/phenylketonuria/

  A dietitian will create a detailed dietary plan for your child that can be revised as your child grows and their needs change. […] As long as a person with PKU sticks to a low-protein diet throughout childhood, and their phenylalanine levels stay within certain limits, they’ll remain well and their brain function should be unaffected. […] People with PKU must also avoid food products that contain aspartame, as it’s converted into phenylalanine in the body. […] A child with phenylketonuria will need regular blood tests to measure levels of phenylalanine in their blood and assess how well they’re responding to treatment. […] It’s recommended that children who are: 1 year or younger should have their blood tested once a week; between 1 and 12 years should have their blood tested every 2 weeks; over 12 years should have their blood tested once a month.

• #16 Phenylketonuria (PKU) | Kaiser Permanente

  https://healthy.kaiserpermanente.org/health-wellness/health-encyclopedia/he.phenylketonuria-pku.hw44745

  Phenylketonuria (PKU) is a rare genetic condition in which the body cannot break down an amino acid called phenylalanine, which is a part of protein. If PKU is not treated, phenylalanine can build up in the blood and lead to intellectual disability and problems with the central nervous system (brain and spinal cord). […] Early treatment can help prevent most problems. Babies born with PKU need to start treatment soon after birth. […] The main treatment for phenylketonuria (PKU) is a lifelong reduced-protein diet. Problems are less likely to occur if your baby starts a PKU diet by age 3 weeks. Your baby’s doctor can help you choose a formula that doesn’t contain phenylalanine. […] Your child will need regular blood tests. Your child may get tested as often as once or more a week for the first year and then once or twice a month throughout childhood.

• #17 PKU (Phenylketonuria) in your baby | March of Dimes

  https://www.marchofdimes.org/find-support/topics/birth/pku-phenylketonuria-your-baby

  Phenylketonuria (also called PKU) is a condition in which your body cant break down an amino acid called phenylalanine. Without treatment, phenylalanine builds up in the blood and causes health problems. […] All babies are screened for PKU soon after theyre born. Finding PKU early helps doctors treat it so babies can grow up healthy. […] If your baby has PKU, they may need testing as often as once a week or more often for the first year of life to check their phenylalanine levels. After that, they may have testing once or twice a month throughout childhood. […] Your baby needs to follow a special meal plan that is low in phenylalanine. Its best to start this meal plan as soon as possible, ideally within the first 7 to 10 days of life. […] PKU meal plans are different for each baby and can vary over time depending on how much phenylalanine your baby can tolerate. Health care providers at a medical center or clinic that has a special program to treat PKU can help you create a meal plan for your baby.

• #18 What are common treatments for phenylketonuria (PKU)? | NICHD – Eunice Kennedy Shriver National Institute of Child Health and Human Development

  https://www.nichd.nih.gov/health/topics/pku/conditioninfo/treatments

  PKU has no cure, but treatment can prevent intellectual disabilities and other health problems. A person with PKU should receive treatment at a medical center that specializes in the disorder. […] 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. […] However, experts now recommend that people with PKU stay on the diet throughout their lives for better physical and mental health. […] It is especially important for a pregnant woman with PKU to strictly follow the low-phenylalanine diet throughout pregnancy to ensure the healthy development of the infant. […] 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.

• #19 Phenylketonuria (PKU) – Diagnosis and treatment – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/phenylketonuria/diagnosis-treatment/drc-20376308

  Your health care provider may refer you to a registered dietitian who can help you learn about the PKU diet, make adjustments to your diet when needed, and offer suggestions on ways to manage PKU diet challenges. […] Because the amount of phenylalanine that a person with PKU can safely eat is so low, it’s important to avoid all high-protein foods, such as: Milk, Eggs, Cheese, Nuts, Soy products, such as soybeans, tofu, tempeh and milk, Beans and peas, Poultry, beef, pork and any other meat, Fish. […] Because of the restricted diet, people with PKU need to get essential nutrients through a special nutritional supplement. The phenylalanine-free formula provides essential protein (amino acids) and other nutrients in a form that’s safe for people with PKU. […] The Food and Drug Administration (FDA) approved the drug sapropterin (Kuvan) for the treatment of PKU. The drug may be used in combination with a PKU diet.

• #20 Phenylketonuria (PKU) | Boston Children’s Hospital

  https://www.childrenshospital.org/conditions/phenylketonuria-pku

  Phenylketonuria (PKU) is an inherited metabolic disorder that prevents the body from being able to break down the amino acid phenylalanine. If children born with PKU are not treated, phenylalanine in the blood can rise to levels that are harmful to the brain, interfering with brain development and causing intellectual disability. […] Fortunately, PKU is highly treatable with diet and/or medication. Following the prescribed treatment for PKU is a lifelong endeavor that requires support from family and your health care team. Children and adults who follow their treatment regimen can live full, active lives. […] PKU requires lifelong care, starting within the week or two after birth. The cornerstone of treatment is a specially prescribed diet that has very low levels of phenylalanine (phe). Because phe is found in nearly all proteins, the diet may limit or exclude meat, eggs, dairy products, legumes, and many grains. Many patients consume specially formulated low-protein foods and drink nutritional formulas.

• #21 Phenylketonuria (PKU) in Children

  https://healthlibrary.uwmedicine.org/Conditions/Pregnancy/160,58

  Phenylketonuria (PKU) is a rare metabolic disorder. Children with PKU cant process an amino acid called phenylalanine. […] PKU is treated with a special diet. Newborn babies who test positive for PKU are placed on phenylalanine-free formula right away. […] A child with PKU should not eat milk, fish, cheese, nuts, beans, or meat. A child with PKU can eat many foods low in protein, such as vegetables, fruits, and some cereals. […] Children born with PKU will need to follow a lifelong low-protein diet and stay away from aspartame. […] If your baby is born with PKU, you can do certain things to take care of them: Keep all appointments with your babys provider. […] Your provider may refer you to a registered dietitian: Natural sources of protein have too much phenylalanine for children with PKU. So your child cant have meat, milk, or other common foods that contain protein. Instead, they must eat a variety of processed foods that are phenylalanine-free. […] If PKU is untreated, phenylalanine will build up in the bloodstream until it reaches levels that can cause brain damage and other serious problems. […] With treatment and dietary restrictions, a child with PKU can grow and develop normally.

• #22 What are common treatments for phenylketonuria (PKU)? | NICHD – Eunice Kennedy Shriver National Institute of Child Health and Human Development

  https://www.nichd.nih.gov/health/topics/pku/conditioninfo/treatments

  PKU has no cure, but treatment can prevent intellectual disabilities and other health problems. A person with PKU should receive treatment at a medical center that specializes in the disorder. […] 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. […] However, experts now recommend that people with PKU stay on the diet throughout their lives for better physical and mental health. […] It is especially important for a pregnant woman with PKU to strictly follow the low-phenylalanine diet throughout pregnancy to ensure the healthy development of the infant. […] 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.

• #23 Phenylketonuria (PKU) Treatment & Management: Approach Considerations, Dietary Measures, Pharmacologic Therapy

  https://emedicine.medscape.com/article/947781-treatment

  Aspartame must also be avoided. Phenylalanine is one of the primary components of aspartame and is found in many artificially sweetened foods and soft drinks, as well as some vitamins and medicines. […] Most newborns with PKU require 40 mg/kg/d to 60 mg/kg/d of dietary phenylalanine to maintain normal growth and development. […] Providing some natural phenylalanine is essential in order to prevent deficiency of this essential amino acid. […] The diet requires virtual elimination of all high-protein foods, such as meat, dairy, nuts, and legumes. […] As patients with PKU transition into adolescence, their caregivers have a less direct influence on their diet. A lack of compliance with the diet is often observed in adolescents and college-aged individuals. […] Women with PKU should start a phenylalanine-restricted diet before conception, and those contemplating pregnancy or who are pregnant should be treated in metabolic or PKU clinics. […] Phenylalanine levels are monitored typically twice a week in neonates, weekly in infants, biweekly or every 3 weeks in toddlers, and monthly thereafter, even during adult life.

• #24 Phenylketonuria (PKU) | UM Health-Sparrow

  https://www.uofmhealthsparrow.org/departments-conditions/conditions/phenylketonuria-pku

  If women don’t follow the special PKU diet before and during pregnancy, blood phenylalanine levels can become high and harm the developing baby. […] People with PKU need to receive lifelong care. […] Starting treatment early and continuing treatment throughout life can help prevent intellectual disability and major health problems. […] The main treatments for PKU include: A lifetime diet with very limited intake of foods with phenylalanine. […] Your health care provider may refer you to a registered dietitian who can help you learn about the PKU diet, make adjustments to your diet when needed, and offer suggestions on ways to manage PKU diet challenges. […] Because of the restricted diet, people with PKU need to get essential nutrients through a special nutritional supplement. […] The phenylalanine-free formula provides essential protein (amino acids) and other nutrients in a form that’s safe for people with PKU.

• #25 Phenylketonuria | Free NURSING.com Courses

  https://nursing.com/lesson/phenylketonuria

  Impaired metabolism of essential amino acid phenylalanine. […] Associated with cognitive and behavioral deficits if untreated. […] Lacking the enzyme needed to break down Phenylalanine. […] Phenylalanine builds up in the body. […] Toxic levels of phenylalanine develops (levels 20 mg/dL). […] Negatively affects growth and development. […] Diagnosis: Routine screening required. […] Guthrie Test- Heel prick. […] Performed at birth. […] Early detection! […] Detection and treatment within the first month of life gives best outcomes. […] Phenylalanine restricted diet. […] Foods to avoid: Dairy, Meat, Fish, Chicken, Eggs. […] Artificial sweeteners (diet products). […] Nutritional Supplements: Tyrosine. […] Long-term Management: Monitor developmental milestones. […] Non-compliance is common in adolescent years.

• #26 Phenylketonuria (PKU) Treatment & Management: Approach Considerations, Dietary Measures, Pharmacologic Therapy

  https://emedicine.medscape.com/article/947781-treatment

  It is important to closely monitor bone health of individuals with PAH deficiency, as there is conflicting data on the incidence of osteopenia in patients with PKU. Vitamin B12 deficiency can occur, given natural protein or animal protein restriction. […] Phenylalanine levels are followed at regular intervals, from weekly or biweekly in younger infants, to perhaps once per month in older children and adults. Most US facilities recommend that phenylalanine levels be maintained in the range of 2 mg/dL to 6 mg/dL (120-360 mol/L). This requires expert care and close monitoring. […] The diet should not be terminated after adolescence, because strong evidence indicates that hyperphenylalaninemia can have detrimental effects in adult patients cognitive functioning. Some adults with untreated PKU who have cognitive decline may show improvement in behavior and physical manifestations when treated with a phenylalanine-restricted diet, or treatment such as Palinzyq (described below).

• #27 What are common treatments for phenylketonuria (PKU)? | NICHD – Eunice Kennedy Shriver National Institute of Child Health and Human Development

  https://www.nichd.nih.gov/health/topics/pku/conditioninfo/treatments

  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. […] Following the diet is especially important during pregnancy. […] However, the PKU diet can be very challenging. Getting support from friends and family or a support group can help. Sticking with the diet ensures better functioning and improved overall health. […] People who follow the PKU diet will not get enough essential nutrients from food. Therefore, they must drink a special formula. […] A newborn who is diagnosed with PKU should receive special infant formula. […] Older children and adults receive a different formula to meet their nutritional needs. This formula should be consumed every day throughout a person’s life.

• #28 Eunice Kennedy Shriver National Institute of Child Health and Human Development – NICHD

  http://www.nichd.nih.gov/health/topics/factsheets/pku

  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. […] It is especially important for a pregnant woman with PKU to strictly follow the low-phenylalanine diet throughout pregnancy to ensure the healthy development of the infant. […] 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. […] Following the diet is especially important during pregnancy. […] The U.S. Food and Drug Administration (FDA) has approved the drug sapropterin dihydrochloride (Kuvan) for the treatment of PKU. […] NICHD-supported researchers and other scientists are exploring additional treatments for PKU.

• #29 What are common treatments for phenylketonuria (PKU)? | NICHD – Eunice Kennedy Shriver National Institute of Child Health and Human Development

  https://www.nichd.nih.gov/health/topics/pku/conditioninfo/treatments

  The U.S. Food and Drug Administration (FDA) has approved the drug sapropterin dihydrochloride (Kuvan) for the treatment of PKU. […] Kuvan only helps some people reduce the phenylalanine in their blood. Even if the medication helps, it will not decrease the phenylalanine to the desired amount and must be used together with the PKU diet. […] NICHD-supported researchers and other scientists are exploring additional treatments for PKU. These treatments include large neutral amino acid supplementation, which may help prevent phenylalanine from entering the brain, and enzyme replacement therapy, which uses a substance similar to the enzyme that usually breaks down phenylalanine.

• #30 Phenylketonuria (PKU) | UM Health-Sparrow

  https://www.uofmhealthsparrow.org/departments-conditions/conditions/phenylketonuria-pku

  The Food and Drug Administration (FDA) approved the drug sapropterin (Kuvan) for the treatment of PKU. […] The drug may be used in combination with a PKU diet. […] The need for a nutritional supplement, especially if you or your child doesn’t find it appealing, and the limited food choices can make the PKU diet challenging. […] Making a firm commitment to this lifestyle change is the only way to prevent the serious health problems that people with PKU can develop.

• #31 Phenylketonuria (PKU) Treatment & Management: Approach Considerations, Dietary Measures, Pharmacologic Therapy

  https://emedicine.medscape.com/article/947781-treatment

  Typical psychomotor development should be expected in patients who are adequately treated. […] Sapropterin was approved by the US Food and Drug Administration (FDA) as a treatment for PKU. It seems to be effective in a subset of patients. […] In May 2018, the FDA approved the first enzyme substitute, pegvaliase (Palynziq), to reduce phenylalanine levels in adults with PKU who have uncontrolled phenylalanine levels of more than 600 mol/L. […] Patients who have suboptimal dietary treatment may benefit to some degree from consuming large neutral amino acids, which may block phenylalanine entry into the brain and may also result in a modest lowering of plasma phenylalanine levels. […] The mainstay of the diet consists of phenylalanine restriction and supplementation of other essential amino acids, vitamins, minerals, and energy intake, using medical foods and low-protein foods.

• #32 PKU: Giving treatment a second chance – Boston Children’s Answers

  https://answers.childrenshospital.org/pku-phenylketonuria-second-chance/

  Several new treatments can reduce or even eliminate the need for the low-phe diet. […] The most game-changing treatment has been phenylalanine ammonia lyase (PAL), a substitute enzyme that also breaks down phe. […] To date, Boston Children’s PAL clinic has treated more than 70 patients with pegvaliase. The vast majority are now eating a regular diet, enjoying foods like meat, ice cream, and peanut butter for the first time. […] Adults wanting to return to PKU treatment can contact the Dr. Harvey Levy Program for Phenylketonuria and Related Conditions, within the Division of Genetics and Genomics, at 617-355-6394.

• #33 Phenylketonuria (PKU) – Symptoms and causes – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/phenylketonuria/symptoms-causes/syc-20376302

  Women who have PKU and become pregnant are at risk of another form of the condition called maternal PKU. If women don’t follow the special PKU diet before and during pregnancy, blood phenylalanine levels can become high and harm the developing baby. […] It’s especially important for women with a history of PKU to see a health care provider and maintain the PKU diet before becoming pregnant and during pregnancy. This reduces the risk of high blood phenylalanine levels harming their unborn babies. […] People with PKU need to receive lifelong care. Adults with PKU who have stopped the PKU diet in their teens may benefit from a visit with their health care providers. Returning to the diet may improve mental functioning and behavior and prevent further damage to the central nervous system that can result from high phenylalanine levels. […] If you have PKU and are considering getting pregnant: Follow a low-phenylalanine diet. Women with PKU can prevent harm to their developing baby by sticking to or returning to a low-phenylalanine diet before becoming pregnant.

• #34 PHENYLKETONURIA (PKU): EARLY DETECTION, TREATMENT OPTIONS AND LATEST ADVANCEMENTS | Mya Care

  https://myacare.com/blog/phenylketonuria-pku-early-detection-treatment-options-and-latest-advancements

  Maternal PKU Syndrome: This refers to a condition that can affect pregnant women with classic PKU. […] Strict phenylalanine control before and during pregnancy is crucial for women with PKU. […] The primary treatment for PKU is a strict low-phenylalanine diet that avoids foods high in protein, such as meat, dairy, and certain grains. […] Individuals with PKU must avoid sweeteners high in phenylalanine, such as aspartame, and foods that are high in protein. […] Living with PKU can be challenging, even with proper management and support. […] It is important for individuals with PKU to follow a strict low-phenylalanine diet and to work with a qualified dietitian to ensure they are meeting their nutritional requirements. […] With proper management and treatment, babies with PKU can go on to live long and healthy lives. However, if left untreated, PKU can lead to severe complications and potential mortality. […] Ongoing research is being done to improve the understanding and treatment of this disorder, and with proper management, individuals with PKU can lead healthy and fulfilling lives.

• #35 Phenylketonuria: MedlinePlus GeneticsLock

  https://medlineplus.gov/genetics/condition/phenylketonuria/

  Phenylketonuria (commonly known as PKU) is an inherited disorder that increases the levels of a substance called phenylalanine in the blood. […] PKU can often be managed by following a diet that is low in phenylalanine. […] Infants with PKU need to be fed with a low-protein formula. […] Affected individuals should work with a health care professional to develop an individualized diet. […] Babies born to mothers who have PKU and are not following a low-phenylalanine diet have a significant risk of intellectual disability because they are exposed to very high levels of phenylalanine before birth. […] Women with PKU who are not following a low-phenylalanine diet (and may have high levels of phenylalanine) also have higher risk of pregnancy loss.

• #36 Management of Women With Phenylalanine Hydroxylase Deficiency (Phenylketonuria) | ACOG

  https://www.acog.org/clinical/clinical-guidance/committee-opinion/articles/2020/04/management-of-women-with-phenylalanine-hydroxylase-deficiency-phenylketonuria

  Lifelong dietary restriction and therapy improve quality of life in patients with PAH deficiency and should be encouraged. […] Prepregnancy consultation with a maternalfetal medicine specialist and genetic counseling, as well as co-management with a metabolic geneticist or specialist involved in the patients care, are recommended for all reproductive-aged women with PAH deficiency and should include information on reproductive options and family planning as well as management of maternal PAH deficiency before, during, and after pregnancy. […] It is recommended that phenylalanine levels less than 6 mg/dL be achieved for at least 3 months before becoming pregnant and maintained at 26 mg/dL during pregnancy. […] Pregnant women with PAH deficiency or hyperphenylalaninemia should be monitored in consultation with physicians familiar with PAH deficiency, with close follow-up with a metabolic geneticist and health care providers with experience in managing high-risk pregnancy.

• #37 Phenylketonuria

  https://www.nhs.uk/conditions/phenylketonuria/

  Many adults with PKU find they function best while on a low-protein diet. The current advice is for people with PKU to remain on a low-protein diet for life. […] For women with PKU, it’s essential that they return to a strict diet if they’re considering becoming pregnant, as high phenylalanine levels can harm an unborn child. […] Provided that phenylalanine levels are strictly controlled during pregnancy, problems can be avoided and there’s no reason why a woman with PKU should not be able to have a normal, healthy baby.

• #38 Management of Women With Phenylalanine Hydroxylase Deficiency (Phenylketonuria) | ACOG

  https://www.acog.org/clinical/clinical-guidance/committee-opinion/articles/2020/04/management-of-women-with-phenylalanine-hydroxylase-deficiency-phenylketonuria

  Lifelong dietary restriction and therapy improve quality of life in patients with PAH deficiency and should be encouraged. […] Prepregnancy consultation with a maternalfetal medicine specialist and genetic counseling, as well as co-management with a metabolic geneticist or specialist involved in the patients care, are recommended for all reproductive-aged women with PAH deficiency and should include information on reproductive options and family planning as well as management of maternal PAH deficiency before, during, and after pregnancy. […] It is recommended that phenylalanine levels less than 6 mg/dL be achieved for at least 3 months before becoming pregnant and maintained at 26 mg/dL during pregnancy. […] Pregnant women with PAH deficiency or hyperphenylalaninemia should be monitored in consultation with physicians familiar with PAH deficiency, with close follow-up with a metabolic geneticist and health care providers with experience in managing high-risk pregnancy.

• #39 Phenylketonuria (PKU) | Health Care Provider’s Guide to Breastfeeding

  https://hcpbreastfeeding.com/resource-center/phenylketonuria-pku

  Infants with PKU can be detected in newborn screenings and must follow a low phenylalanine diet. […] For infants with PKU, breastmilk has advantages such as a low content of the amino acid, phenylalanine and protein. […] Research shows that infants breastfeeding before diagnosis of PKU and intervention had a 14-point higher IQ than infants who were formula fed before diagnosis. […] Infants with Phenylketonuria (PKU) can breastfeed and/or provide expressed breastmilk supplemented with phenylalanine-free formula under the direction of a metabolic dietitian. […] Serum levels of phenylalanine must be carefully monitored.

• #40 Poisonous Protein: Breastfeeding and Pregnancy with PKU | InfantRisk Center

  https://infantrisk.com/content/poisonous-protein-breastfeeding-and-pregnancy-pku

  Phenylketonuria (PKU) is an inherited metabolic disorder in which an affected person is less able to process the amino acid phenylalanine. Abnormally high levels of phenylalanine in the blood and tissues can cause a variety of toxic effects, including brain damage. All infants born in hospitals in the United States, and much of the rest of the first world, are routinely tested for PKU. With proper dietary management, most PKU patients have good outcomes. […] […] In the case of maternal PKU, strict dietary control to maintain low blood phenylalanine levels is critical to the healthy formation of the fetus. Phenylalanine transfer across the placenta is substantial. Even dietary changes initiated late in the pregnancy, or into childhood, provide significant benefit. […] […] Evidence strongly suggests that elevated phenylalanine levels in the mothers bloodstream produce proportionately elevated levels in the breastmilk. However, this does not seem to produce elevated levels in the babys blood. […] Regardless of the babys status, it is still recommended that all phenylketonuric adults maintain a phenylalanine-free diet for their own health. Breastfeeding is encouraged in this circumstance. […]

• #41 Phenylketonuria

  https://www.nhs.uk/conditions/phenylketonuria/

  Many adults with PKU find they function best while on a low-protein diet. The current advice is for people with PKU to remain on a low-protein diet for life. […] For women with PKU, it’s essential that they return to a strict diet if they’re considering becoming pregnant, as high phenylalanine levels can harm an unborn child. […] Provided that phenylalanine levels are strictly controlled during pregnancy, problems can be avoided and there’s no reason why a woman with PKU should not be able to have a normal, healthy baby.

• #42 Phenylketonuria (PKU) Treatment & Management: Approach Considerations, Dietary Measures, Pharmacologic Therapy

  https://emedicine.medscape.com/article/947781-treatment

  It is important to closely monitor bone health of individuals with PAH deficiency, as there is conflicting data on the incidence of osteopenia in patients with PKU. Vitamin B12 deficiency can occur, given natural protein or animal protein restriction. […] Phenylalanine levels are followed at regular intervals, from weekly or biweekly in younger infants, to perhaps once per month in older children and adults. Most US facilities recommend that phenylalanine levels be maintained in the range of 2 mg/dL to 6 mg/dL (120-360 mol/L). This requires expert care and close monitoring. […] The diet should not be terminated after adolescence, because strong evidence indicates that hyperphenylalaninemia can have detrimental effects in adult patients cognitive functioning. Some adults with untreated PKU who have cognitive decline may show improvement in behavior and physical manifestations when treated with a phenylalanine-restricted diet, or treatment such as Palinzyq (described below).

• #43 Phenylketonuria (PKU)

  https://www.nutricia.com/specialize/iem/pku.html

  PKU, occurring in just 1 in 10,000-15,000 newborns, is diagnosed through newborn screening by identifying high levels of phenylalanine in the blood. […] The cornerstone of managing PKU symptoms involves adhering to a strict low-protein diet, commonly known as the PKU diet, which limits the intake of phenylalanine. […] PKU patients must adhere to a low-protein diet meticulously to manage PKU symptoms and maintain good overall health. […] PKU management involves a special diet that limits the consumption of high-protein foods. […] Maintaining a low-protein diet during these periods is crucial to prevent the escalation of phenylalanine levels. […] Therefore, PKU monitoring includes frequent blood tests for phenylalanine, height and weight assessments, developmental checks, and ongoing personalised dietary adjustments based on age, weight, and phenylalanine levels.

• #44 Phenylketonuria (PKU)

  https://www.mymlc.com/health-information/diseases-and-conditions/p/phenylketonuria-pku2/?section=Diagnosis

  The need for a nutritional supplement, especially if your child doesn’t find it appealing, and the limited food choices can make the PKU diet challenging. But families need to make a firm commitment to this lifestyle change because it’s the only way to prevent the serious health problems that people with PKU can develop. […] A registered dietitian with experience in PKU can help you devise delicious low-phenylalanine dinners. […] Once your child is diagnosed with PKU, you’ll likely be referred to a medical center or specialty clinic with a doctor who specializes in treating PKU and a dietitian with expertise in the PKU diet.

• #45 Phenylketonuria: What Is It?

  https://www.webmd.com/digestive-disorders/phenylketonuria-overview

  The PKU diet cuts out many of the foods most people eat. This can make life tough for both kids and adults. If your child has the disorder, you may worry they’ll miss out on birthday parties and trips, or that they’ll fall off the diet because of pressure from their friends. If you have PKU, you might be concerned that it could affect your job or social life. […] Many people with PKU turn to close friends and family for support. But it can also help to talk to other people with the disease because they know what you’re going through. Some studies have shown that people in support groups know more about their disease and are more likely to stick with treatment.

• #46 Phenylketonuria (PKU) Treatment & Management: Approach Considerations, Dietary Measures, Pharmacologic Therapy

  https://emedicine.medscape.com/article/947781-treatment

  Aspartame must also be avoided. Phenylalanine is one of the primary components of aspartame and is found in many artificially sweetened foods and soft drinks, as well as some vitamins and medicines. […] Most newborns with PKU require 40 mg/kg/d to 60 mg/kg/d of dietary phenylalanine to maintain normal growth and development. […] Providing some natural phenylalanine is essential in order to prevent deficiency of this essential amino acid. […] The diet requires virtual elimination of all high-protein foods, such as meat, dairy, nuts, and legumes. […] As patients with PKU transition into adolescence, their caregivers have a less direct influence on their diet. A lack of compliance with the diet is often observed in adolescents and college-aged individuals. […] Women with PKU should start a phenylalanine-restricted diet before conception, and those contemplating pregnancy or who are pregnant should be treated in metabolic or PKU clinics. […] Phenylalanine levels are monitored typically twice a week in neonates, weekly in infants, biweekly or every 3 weeks in toddlers, and monthly thereafter, even during adult life.

• #47 Phenylketonuria (PKU) – Child Neurology Foundation

  https://www.childneurologyfoundation.org/disorder/phenylketonuria/

  With newborn screening, PKU can be identified in infancy. When promptly treated, severe brain injury can be avoided. PKU treatment requires lifelong monitoring of Phe. […] Women with PKU need to be especially careful. High Phe levels can cause loss of pregnancies and congenital disabilities. […] PKU treatment involves providing adequate protein for normal growth and development. At the same time, it must avoid high Phe levels. PKU treatment requires a specialized team approach and may utilize: Special formulas, Low-protein medical foods, Daily medications. […] Patients with PKU are given a diet low in Phe. They are also given Phe-free protein supplements. (These are usually in the form of formulas or drinks.) […] The low-Phe diet can be difficult for patients and their families to follow. Patients may have to avoid common foods the rest of the family can eat (such as whole wheat bread and potatoes). Substitutions may not taste as good and can be more expensive. […] Children with PKU can lead normal and healthy lives. Early and consistent treatment is key. Brain injury that has already occurred cannot be reversed. Newborns with PKU can be diagnosed and treated before brain injury occurs.

• #48 What are common treatments for phenylketonuria (PKU)? | NICHD – Eunice Kennedy Shriver National Institute of Child Health and Human Development

  https://www.nichd.nih.gov/health/topics/pku/conditioninfo/treatments

  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. […] Following the diet is especially important during pregnancy. […] However, the PKU diet can be very challenging. Getting support from friends and family or a support group can help. Sticking with the diet ensures better functioning and improved overall health. […] People who follow the PKU diet will not get enough essential nutrients from food. Therefore, they must drink a special formula. […] A newborn who is diagnosed with PKU should receive special infant formula. […] Older children and adults receive a different formula to meet their nutritional needs. This formula should be consumed every day throughout a person’s life.

• #49 Newborn Screening Program – Phenylketonuria

  http://www.idph.state.il.us/healthwellness/fs/pku.htm

  Infants and children with PKU or hyperphenylalaninemia should have regular follow-up appointments with a metabolic disease specialist. […] Parents should understand that treatment is not curative and that all morbidity cannot necessarily be prevented. Long-term management, monitoring and compliance with treatment recommendations are essential to the child’s well-being. A multidisciplinary approach is recommended and should include the following specialties: pediatrics, genetics and nutrition. […] With proper medical care and lifelong dietary management, children with PKU can enjoy healthy, productive lives.

• #50 Phenylketonuria (PKU) | Texas DSHS

  https://www.dshs.texas.gov/newborn-screening-program/newborn-screening-parent-resources/phenylketonuria-pku

  Phenylketonuria (fennel-key-ton-uria) is often called PKU for short. PKU is a condition some children have that affects their ability to properly use protein from their food. […] The main treatment is a diet low in „phe”. If the diet is started early enough and closely followed, the child’s development will be normal in almost all cases. […] The diet must be carefully planned to allow enough „phe” for the child to grow normally, yet not enough to produce the harmful effects of excessive „phe”. […] Several special formula-milk substitute products are available. These special formulas make it possible to plan a diet that is low in „phe” but adequate in protein, calories, and essential vitamins and minerals. […] A diet record, with the exact kinds and amounts of food eaten, will need to be kept just before each monitoring blood test. The nutritionist will use this record to decide what changes, if any, need to be made in the diet prescription.

• #51 Phenylketonuria (PKU) | Boston Children’s Hospital

  https://www.childrenshospital.org/conditions/phenylketonuria-pku

  Our dedicated team of physicians, dietitians, nurse practitioners, nurse, social workers, psychologists, and biochemical genetics laboratory specialists are committed to supporting people with this highly treatable condition. PKU requires lifelong care, and our multidisciplinary team will work with you to achieve the best health available. […] The PAL Clinic cares for patients with phenylketonuria (PKU) who want to receive enzyme therapy.

• #52 Phenylketonuria (PKU) Program | Children’s Hospital Pittsburgh

  https://www.chp.edu/our-services/pku

  The Phenylketonuria Program promotes normal development and prevents severe intellectual disability and other symptoms of brain dysfunction in children with PKU by placing them on a low phenylalanine diet. […] Services include medical evaluations, nutrition counseling, psychological testing and genetic counseling. […] Patients are seen at frequent intervals; a nurse may periodically visit the home to obtain blood specimens. […] The Maternal PKU Program is a preventive program for young women and girls 12 years or older with elevated phenylalanine in the years before childbearing.

• #53 Phenylketonuria (PKU) | Nursing Times

  https://www.nursingtimes.net/archive/phenylketonuria-pku-29-07-2003/

  – It is recommended that people with PKU follow the special diet for life. […] – If a child’s phenylalanine control is kept within the acceptable range, growth and development will not be affected. Therefore, extra developmental assessments should not be required. […] – After diagnosis the family may need extra support in coping with shock, anxiety or stress. […] – It is important that dietary advice is consistent. The child’s dietitian should, therefore, be the only person giving advice.

• #54 Phenylketonuria (PKU) | Texas DSHS

  https://www.dshs.texas.gov/newborn-screening-program/newborn-screening-parent-resources/phenylketonuria-pku

  Severe intellectual disabilities and other problems resulting from PKU can be prevented by early diagnosis and proper diet control. […] PKU cannot be cured but can be treated if a special diet is started early in the newborn period. Current research indicates that the special diet should be continued at least through adolescence and possibly throughout life. […] The special PKU diet provides all protein, calories, vitamins and minerals needed for normal growth and development. […] It is very important that the special PKU diet be carefully followed at all times. […] Successful management of PKU involves not only the parents and physician but requires the cooperation of everyone who comes in contact with the child, including relatives, neighbors, friends, babysitters, teachers, and physicians.

• #55 Phenylketonuria (PKU)

  https://www.mymlc.com/health-information/diseases-and-conditions/p/phenylketonuria-pku2/?section=Diagnosis

  The need for a nutritional supplement, especially if your child doesn’t find it appealing, and the limited food choices can make the PKU diet challenging. But families need to make a firm commitment to this lifestyle change because it’s the only way to prevent the serious health problems that people with PKU can develop. […] A registered dietitian with experience in PKU can help you devise delicious low-phenylalanine dinners. […] Once your child is diagnosed with PKU, you’ll likely be referred to a medical center or specialty clinic with a doctor who specializes in treating PKU and a dietitian with expertise in the PKU diet.

• #56 Phenylketonuria | Effective Health Care (EHC) Program

  https://effectivehealthcare.ahrq.gov/health-topics/phenylketonuria

  Phenylketonuria (PKU) is a type of amino acid metabolism disorder. It is inherited. If you have it, your body can’t process part of a protein called phenylalanine (Phe). Phe is in almost all foods. If your Phe level gets too high, it can damage your brain and cause severe intellectual disability. All babies born in U.S. hospitals must now have a screening test for PKU. This makes it easier to diagnose and treat the problem early. […] The best treatment for PKU is a diet of low-protein foods. There are special formulas for newborns. For older children and adults, the diet includes many fruits and vegetables. It also includes some low-protein breads, pastas and cereals. Nutritional formulas provide the vitamins and minerals you can’t get from their food. […] Babies who get on this special diet soon after they are born develop normally. Many have no symptoms of PKU. It is important to stay on the diet for the rest of your life.

• #57 Phenylketonuria (PKU): Practice Essentials, Background, Pathophysiology

  https://emedicine.medscape.com/article/947781-overview

  Early initiation of treatment for phenylketonuria (PKU) in the first few days of life is critical in preventing the severe manifestations of the disease. While a strict low-phenylalanine diet can help manage symptoms, mild cognitive deficits and mental health issues may still arise even with good dietary control. The prognosis for normal intelligence is excellent when patients are promptly placed on a low-phenylalanine diet within the first month of life and receive careful and frequent monitoring. Full management by a medical biochemical geneticist and an experienced metabolic dietitian is essential for successful outcomes. Regular follow-up visits and adherence to dietary guidelines are necessary to optimize long-term health and cognitive outcomes for individuals with PKU. […] Teach parents how to administer the diet at home, and count grams of natural protein in foods, and involve all caregivers as well. Women with PKU should be educated about the risks of untreated pregnancy and the benefits of dietary and, in some cases, pharmacologic, treatment. The phenylalanine-restricted diet with semisynthetic supplementation is not without risk. Patients with PKU under dietary treatment can have low concentrations of trace elements and cholesterol and can have some disturbance to folate metabolism and distortion of their fatty acid profile. However, much of this is mitigated when under the guidance of an experienced metabolic dietitian.

• #58 Phenylketonuria (PKU) | Children’s Hospital of Philadelphia

  https://www.chop.edu/conditions-diseases/phenylketonuria-pku

  Children with PKU should be seen regularly by physicians to monitor how effective treatment is and adjust care as needed. […] Children treated for PKU at CHOP check in annually with the Metabolic Disease Program so we can track their progress and make any necessary adjustments to their treatment plan. […] If treated, children with PKU may develop normally, although some may still have difficulty with language skills, memory, learning and executive function. Adults who discontinue treatment may see a higher incidence of psychiatric and cognitive changes, including anxiety, depression, reduced attention span and slower reaction times.

• #59 Phenylketonuria (PKU) | Children’s Hospital of Philadelphia

  https://www.chop.edu/conditions-diseases/phenylketonuria-pku

  Children with PKU should be seen regularly by physicians to monitor how effective treatment is and adjust care as needed. […] Children treated for PKU at CHOP check in annually with the Metabolic Disease Program so we can track their progress and make any necessary adjustments to their treatment plan. […] If treated, children with PKU may develop normally, although some may still have difficulty with language skills, memory, learning and executive function. Adults who discontinue treatment may see a higher incidence of psychiatric and cognitive changes, including anxiety, depression, reduced attention span and slower reaction times.

• #60

  https://www.reimaginepku.com/healthcare-professionals

  Phenylketonuria (PKU) is a genetic disorder characterized by the body’s inability to break down an amino acid called phenylalanine. […] From early diagnosis to lifelong management, PKU demands more than diet alone. […] The ACMG acknowledges the need for new therapeutic options beyond diet. With more investigational treatments for PKU being developed, monitoring remains critical, with blood Phe as the gold standard for tracking treatment effectiveness. […] Managing PKU through diet alone presents significant challenges, including social isolation, emotional stress, and barriers to adherence due to the complexity of dietary restrictions. […] Experts highlight the life-altering impact of achieving diet normalization, which offers freedom, improves quality of life, and reduces dependency on medical formula.

• #61 PKU: Giving treatment a second chance – Boston Children’s Answers

  https://answers.childrenshospital.org/pku-phenylketonuria-second-chance/

  Phenylketonuria (PKU) was once a common cause of intellectual disability. Children born with this metabolic condition lack phenylalanine hydroxylase (PAH), the enzyme needed to break down the amino acid phenylalanine (phe). Instead, phe builds up to levels harmful to the brain. […] The PKU diet, however, is restrictive and challenging. Since nearly all foods contain proteins and therefore phe, the diet for classical PKU excludes meat, eggs, dairy products, legumes, and many grains. […] In 2001, the guidance changed to recommend adhering to the PKU diet for life. Research had found that people who had stopped the diet at age 6 had significantly lower IQ scores. […] Even when they’re past the age when they would sustain cognitive deficits, some people with untreated PKU experience ‘brain fog,’ reporting decreased mental clarity, anxiety, depression, and irritability,

• #62 Phenylketonuria Nursing Care Planning and Management

  https://nurseslabs.com/phenylketonuria/

  Nurses play an essential role in early detection through newborn screening, supporting families in managing the strict phenylalanine-restricted diet, and monitoring phenylalanine levels to prevent complications. […] Nursing care for a child with PKU involves the following: […] Assessing a child with PKU should include: […] Based on the assessment data, the major nursing diagnoses are: […] The nursing care planning goals for a child with phenylketonuria are: […] The nursing interventions for a child with PKU are: […] Goals are met as evidenced by: […] Documentation in a child with PKU includes:

• #63 Newborn Screening Program – Phenylketonuria

  http://www.idph.state.il.us/healthwellness/fs/pku.htm

  Infants and children with PKU or hyperphenylalaninemia should have regular follow-up appointments with a metabolic disease specialist. […] Parents should understand that treatment is not curative and that all morbidity cannot necessarily be prevented. Long-term management, monitoring and compliance with treatment recommendations are essential to the child’s well-being. A multidisciplinary approach is recommended and should include the following specialties: pediatrics, genetics and nutrition. […] With proper medical care and lifelong dietary management, children with PKU can enjoy healthy, productive lives.

• #64 Phenylketonuria. | Nursing Times

  https://www.nursingtimes.net/childrens-nursing/phenylketonuria-20-09-2005/

  Phenylketonuria (PKU) is a genetic disorder characterised by an inability to utilise the amino acid phenylalanine. […] Treatment is by restricting intake of phenylalanine using a low-protein diet. This is very effective at lowering levels of phenylalanine in the body and allows normal growth and development of the child. […] All nurses who work with individuals with PKU should be aware of the dietary requirements and restrictions. […] Living with dietary restrictions can be very difficult for children. They may wish to share concerns or feelings about being different from peers. […] If there is insufficient intake of phenylalanine, which is an essential amino acid, levels may to be too low for growth and body functions, so routine screening is especially important.

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