Materiały źródłowe

• #1 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. […] 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. The goal is to eat only the amount of phenylalanine necessary for healthy growth and body processes but not any extra.

• #1 Phenylketonuria: Causes, Symptoms, and Diagnosis

  https://www.healthline.com/health/phenylketonuria

  Phenylketonuria (PKU) is a genetic condition, so it cant be prevented. […] If you have PKU, you can prevent symptoms by following your PKU meal plan throughout your life.

• #1 The complete European guidelines on phenylketonuria: diagnosis and treatment | Orphanet Journal of Rare Diseases | Full Text

  https://ojrd.biomedcentral.com/articles/10.1186/s13023-017-0685-2

  In 1990, Smith et al. showed that every 4 weeks delay in starting treatment caused a decline of IQ score by approximately 4 points, underscoring the knowledge that neurological damage starts early after birth. […] As a consequence it is generally recommended that treatment should start as early as possible to prevent neurological damage. […] We consider that treatment should be initiated before the age of 10 days, which for many countries will require change in timing of national NBS, logistical and diagnostic procedures. […] There is unanimity in the literature and among professionals that patients with untreated blood Phe concentrations 600 mol/l should be treated. […] The evidence regarding initiation of treatment with blood Phe concentrations between 360 and 600 mol/l is inconsistent.

• #1 The complete European guidelines on phenylketonuria: diagnosis and treatment | Orphanet Journal of Rare Diseases | Full Text

  https://ojrd.biomedcentral.com/articles/10.1186/s13023-017-0685-2

  The statements in this guideline recommend blood Phe as upper target levels where reported studies used means or mean of medians. […] The evidence for patients 12 years of age is strong indicating that a Phe concentration of 360 mol/l should be considered as the upper target Phe concentration. […] The evidence for patients 12 years of age is mainly indirect, as there are no studies investigating the effect of Phe levels during adolescence in patients who were in good metabolic control during childhood. […] The nutritional status of patients varies according to PKU severity and type of treatment. […] The nutritional follow-up requires the monitoring of anthropometry, body mass index (BMI), clinical signs of nutrient deficiency, nutrient intake and biological biomarkers to detect subclinical micronutrients excess or deficiencies.

• #1 Phenylketonuria

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

  People with PKU must also avoid food products that contain aspartame, as it’s converted into phenylalanine in the body. […] 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. […] 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. […] It’s recommended that all women with PKU plan their pregnancies carefully. You should aim to follow a strict low-protein diet and monitor your blood before becoming pregnant.

• #1 PKU dietary handbook to accompany PKU guidelines | Orphanet Journal of Rare Diseases | Full Text

  https://ojrd.biomedcentral.com/articles/10.1186/s13023-020-01391-y

  Initial phenylalanine tolerance is established in early infancy, with the amount of breast milk or standard infant formula being titrated with the blood phenylalanine levels. […] These dietary changes should always be done under the supervision of a metabolic dietitian or physician. […] All individuals with PKU should be allocated a daily allowance of phenylalanine according to their individual tolerance. […] During any dietary change it is important to monitor blood phenylalanine levels regularly. […] Giving adequate energy intake from very low protein sources is essential to meet energy requirements and to minimise catabolism that can lead to poor blood phenylalanine control. […] The provision of an adequate dose of protein substitute, usually based on phenylalanine-free amino acids supplements, is essential to promote normal growth, prevent protein deficiency, provide a source of tyrosine, and help optimise blood phenylalanine control.

• #1 The Prevention of Maternal Phenylketonuria (PKU) Syndrome: The Development and Evaluation of a Specific Training Program

  https://www.mdpi.com/2072-6643/16/23/4111

  The prevention of maternal PKU syndrome is one of the most important goals in the professional care of women with PKU of childbearing age. […] To further improve long-term outcomes for children born by women with PKU, we developed a specific training program for potential future mothers. […] We suggest the inclusion of specific training programs in the standard care of female young adults with PKU, including for their partners. […] With the development of a specific training program for women with PKU of childbearing age, we pursued the goal of first determining general knowledge in this field and secondly preventing or diminishing the occurrence of maternal PKU syndrome in the future. […] This training could help reduce the prevalence of maternal PKU syndrome.

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

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

  Phenylketonuria (PKU) is a sporadically occurring congenital disorder as a result of a deficiency in phenylalanine hydroxylase, which converts phenylalanine into other essential compounds. Without this enzyme, phenylalanine can build up in the body and cause serious health problems. […] Strict, lifelong dietary management is essential to prevent intellectual disability and other health issues. […] This type can give rise to fetal birth defects, such as microcephaly, congenital heart disease, intellectual disability, and intrauterine growth restriction, which limits fetal development and elevates the risk of miscarriage. 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. Instead, individuals with PKU must follow a special low-protein diet that a registered dietitian carefully monitors.

• #1 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

  Phenylalanine hydroxylase (PAH) deficiency is an autosomal recessive disorder of phenylalanine metabolism that is characterized by insufficient activity of PAH, a hepatic enzyme. […] Aspects of PAH deficiency management that are particularly relevant to obstetriciangynecologists or other obstetric care providers include the prevention of embryopathy associated with maternal hyperphenylalaninemia and PAH deficiency and the risk of genetic transmission of PAH deficiency. Family planning and prepregnancy counseling are recommended for all reproductive-aged women with PAH deficiency. […] The crucial role played by maternal dietary restriction before and during pregnancy should be stressed in counseling patients with PAH deficiency; the goal should be to normalize blood phenylalanine levels (less than 6 mg/dL) for at least 3 months before becoming pregnant and to maintain at 26 mg/dL during pregnancy, in order to optimize developmental outcomes for the fetus.

• #1 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

  The fetal brain and heart are particularly vulnerable to high maternal concentrations of phenylalanine. […] If phenylalanine levels are maintained at 26 mg/dL before pregnancy or by 8 weeks of gestation, there is evidence to suggest a reduction in the fetal sequelae of hyperphenylalaninemia. […] Reduction of the maternal blood phenylalanine level to 10 mg/dL or less decreases the incidence of microcephaly from 73% to 8%. […] Breastfeeding is safe for infants born to women who have PAH deficiency provided the infants do not have PAH deficiency.

• #1 Phenylketonuria (PKU) – Augusta HealthSearchClose SearchSearch IconSearch IconClose Search IconMobile Menu IconMobile Menu Close IconInstagramFacebookTwitterYoutube

  https://www.augustahealth.com/disease/phenylketonuria-pku/

  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. Nutritional supplements designed for people with PKU can ensure enough protein and nutrition during pregnancy. If you have PKU, talk to your health care provider before you start trying to conceive. […] Consider genetic counseling. If you have PKU, a close relative with PKU or a child with PKU, you may benefit from genetic counseling before becoming pregnant. A specialist in medical genetics (geneticist) can help you better understand how PKU is passed through your family. The specialist can also help determine your risk of having a child with PKU and assist with family planning.

• #1 Phenylketonuria Information | Mount Sinai – New York

  https://www.mountsinai.org/health-library/diseases-conditions/phenylketonuria

  An enzyme assay or genetic testing can determine if parents carry the gene for PKU. Chorionic villus sampling or amniocentesis can be done during pregnancy to test the unborn baby for PKU. […] It is very important that women with PKU closely follow a strict low-phenylalanine diet both before becoming pregnant and throughout the pregnancy. Buildup of phenylalanine will damage the developing baby, even if the child has not inherited the full disease.

• #1 New Strategies for the Treatment of Phenylketonuria (PKU)

  https://pmc.ncbi.nlm.nih.gov/articles/PMC4279156/

  Phenylketonuria (PKU) was the first inherited metabolic disease in which dietary treatment was found to prevent the diseases clinical features. […] Treatment of phenylketonuria remains difficult due to progressive decrease in adherence to diet and the presence of neurocognitive defects despite therapy. […] Dietary treatment has been very effective in the prevention of impaired cognitive development, but still has its shortcomings. […] For these reasons, new medical formulas with improved nutritional quality and palatability have been developed to lower the volume of food and to improve compliance. […] Overall, restriction of the intake of natural protein with supplementation of a Phe-free medical formula remains the cornerstone of PKU management and is being helped by the developments of a larger variety of medical foods, some of which made with GMP, a low-phe whey protein.

• #1 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

  Following the diet is especially important during pregnancy. […] People who follow the PKU diet will not get enough essential nutrients from food. Therefore, they must drink a special formula. […] 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.

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

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

  Several medications can reduce or even eliminate the need for dietary treatment. These include: Sapropterin (Kuvan), a vitamin cofactor that helps the body break down phe. Phenylalanine ammonia lyase (PAL), a replacement enzyme that also breaks down phe. Approved in 2018 for adults with PKU, it is formulated as pegvaliase (Palynziq) and injected daily under the skin. […] The Dr. Harvey Levy Program for Phenylketonuria and Related Conditions at Boston Children’s Hospital grew out of Boston Children’s original PKU clinic, the first in the country. Today, as part of the Metabolism Program in the Division of Genetics and Genomics, we take a comprehensive approach to testing and treating children and adults with PKU, other amino acid disorders, and cofactor disorders. […] 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.

• #1 The complete European guidelines on phenylketonuria: diagnosis and treatment | Orphanet Journal of Rare Diseases | Full Text

  https://ojrd.biomedcentral.com/articles/10.1186/s13023-017-0685-2

  We recommend that patients with an untreated Phe concentration between 360 and 600 mol/l should be treated during the first 12 years of age particularly as good metabolic control during childhood appears essential to prevent cognitive function impairment in PKU. […] As there is currently no strong evidence that it is safe to discontinue dietary treatment in adults, treatment for life is recommended, even though it is acknowledged that dietary management is associated with significant patient burden. […] In PKU, life-long, systematic follow-up is recommended independent of the degree of adherence and (non-) treatment choice, to screen for long-term complications at any life stage, and provide appropriate support to patients. […] The primary goal of treatment is normal neurocognitive and psychosocial functioning.

• #1 The complete European guidelines on phenylketonuria: diagnosis and treatment | Orphanet Journal of Rare Diseases | Full Text

  https://ojrd.biomedcentral.com/articles/10.1186/s13023-017-0685-2

  It is important that all advice is individually tailored, particularly for women with psychological and/or intellectual impairment. […] The development of a device able to accurately measure and generate immediate blood Phe results for home monitoring (instead of home sampling) is likely to change management practices. […] Future research is necessary to identify the number of adults who experience clinical symptoms together with better characterisation and impact of sign and symptoms.

• #1 New Strategies for the Treatment of Phenylketonuria (PKU)

  https://pmc.ncbi.nlm.nih.gov/articles/PMC4279156/

  Dietary treatment is monitored by frequent measurement of plasma/blood phenylalanine levels. […] The evidence to support the efficacy of LNAA supplementation to significantly reduce blood Phe levels in patients with PKU is still limited. […] In summary, treatment with sapropterin resulted in significant (at least 30%) and sustained reductions in blood Phe concentrations and increased dietary Phe tolerance in responsive PKU patients. […] Patients with PKU should still be treated with dietary therapy, but in the long term the introduction of a wide array of new treatment approaches such as more palatable foods based on the use of GMP products or the administration of LNAA or BH4 could decrease the need for phenylalanine restriction in the diet. […] Long-term outcome studies assessing efficacy and safety of GMP medical foods, BH4, LNAA supplementation and enzymatic therapy will be useful in providing the evidence allowing for standardization of management and will alternatively provide in a cost-effective way an individualized management plan for PKU patients.

• #1 Gene Therapy for PKU: Using Viral Vectors to Treat Phenylketonuria – American Gene Technologies

  https://www.americangene.com/pipeline/phenylketonuria-pku/

  Phenylketonuria (PKU) is one of the most common monogenic rare diseases with annual incidence in the United States of approximately 1 case among 13,500 live births. […] PKU disease may be managed by strict compliance to a medical food diet lacking Phe. Children born with PKU must immediately and exclusively adhere to this medical food diet or risk severe defects in normal development affecting the brain and major organs. […] There is an important need to develop therapies for PKU that will correct behavioral abnormalities in adults to improve their quality of life. Successful gene therapy for PKU in adults will enable treatment for infants to prevent early damage due to Phe accumulation and provide a life-long cure. […] Our goal is to modify liver cells with lentivirus vectors and reconstitute the capacity for phenylalanine metabolism.

• #1 Gene Therapy for PKU: Using Viral Vectors to Treat Phenylketonuria – American Gene Technologies

  https://www.americangene.com/pipeline/phenylketonuria-pku/

  We are committed to single-dose gene therapies that will provide permanent correction of the underlying defect in a safe and cost-effective manner. Our lentivirus vector program in PKU is designed specifically for these goals and is progressing rapidly towards clinical development. […] Advocacy and financial support are very important for sustaining research and development on new treatments for PKU. Advocates will play critical roles in recruitment for clinical trials and may contribute to understanding the risk benefit analysis for genetic medicines.

• #1 Genetic engineering of a PKU treatment is tested

  https://frontlinegenomics.com/genetic-engineering-of-a-pku-treatment-is-tested/

  Genetic engineering of a strain of E. Coli has successfully passed safety protocols for the treatment of PKU. […] The primary aim of these experiments was to observe the safety and patient tolerability of the engineered strain, as well as gain further insight into microbial kinetics. […] The results deemed SYNB1618 safe and well tolerated, showing only some mild to moderate adverse effects. […] Results also concluded that SYNB1618 was a safe oral treatment, available for use by patients of all ages and PAH genotypes. […] Moreover, these results warrant further study of SYNB1618 in larger cohorts of PKU patients to evaluate the reduction of plasma Phe via bacterial metabolism. […] Nonetheless, this first in-human study demonstrates huge potential in the use of genetically engineered probiotics for the treatment of rare metabolic disorders.

• #1 The complete European guidelines on phenylketonuria: diagnosis and treatment | Orphanet Journal of Rare Diseases | Full Text

  https://ojrd.biomedcentral.com/articles/10.1186/s13023-017-0685-2

  Phenylketonuria (PKU) is an autosomal recessive inborn error of phenylalanine metabolism caused by deficiency in the enzyme phenylalanine hydroxylase that converts phenylalanine into tyrosine. […] PKU management differs widely across Europe, even though the evidence on which management is based is the same. Therefore, the development of European PKU guidelines was considered necessary and initiated after the publication of the consensus paper by the European Society of Phenylketonuria and Allied Disorders (ESPKU). […] The cornerstone of PKU treatment is a low Phe diet in combination with Phe-free L-amino acid supplements. […] The goal of these European guidelines is to offer a standard for diagnostics, treatment and care in PKU that would lead to optimal clinical and neuropsychological outcome without overtreatment and unnecessary costs.

• #1 Newborn Screening Program – Phenylketonuria

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

  Phenylketonuria (PKU) is a disorder of amino acid metabolism that results in excess levels of phenylalanine in body fluids. Elevated levels of phenylalanine can become neurotoxic; early detection and treatment of hyperphenylalaninemia is necessary to prevent mental retardation. […] Early diagnosis and treatment is essential to prevent developmental delays. […] Women of childbearing age who are diagnosed with PKU or hyperphenylalaninemia require strict dietary control prior to conception and throughout pregnancy to reduce their risk of complications, including miscarriage or of having an infant with severe birth defects due to high maternal levels of phenylalanine. […] The National Institutes of Health recommends lifetime low phenylalanine diet for individuals with PKU. […] Parents should understand that treatment is lifelong and that compliance with dietary management is imperative to the child’s health, growth and development.

• #1 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. […] Long-term management, monitoring and compliance with treatment recommendations are essential to the child’s well-being. […] With proper medical care and lifelong dietary management, children with PKU can enjoy healthy, productive lives.

• #2 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.

• #2 Phenylketonuria – Wikipedia

  https://en.wikipedia.org/wiki/Phenylketonuria

  Phenylketonuria is an inherited genetic disorder. […] Many countries have newborn screening programs for the disease. […] Treatment is with a diet that (1) is low in foods that contain phenylalanine, and (2) includes special supplements. […] People who are diagnosed early and maintain a strict diet can have normal health and a normal life span. […] If dietary treatment is not initiated within 2 weeks after birth, the child is likely to develop permanent intellectual disability, even if dietary interventions begin shortly thereafter. […] People who follow the prescribed dietary treatment from birth may (but not always) have no symptoms. […] The diet requires restricting or eliminating foods high in Phe, such as soybeans, egg whites, shrimp, chicken breast, spirulina, watercress, fish, nuts, crayfish, lobster, tuna, turkey, legumes, and low-fat cottage cheese.

• #2 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. […] All babies are screened for PKU soon after theyre born. Finding PKU early helps doctors treat it so babies can grow up healthy. […] 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. […] Your child will follows the PKU meal plan through their whole life. If they eventually get pregnant, they follow their meal plan throughout pregnancy. Most pregnant and parenting people who have PKU can have healthy pregnancies and healthy babies.

• #2 Phenylketonuria (PKU) | New York State Department of Health, Wadsworth Center

  https://www.wadsworth.org/public-health-programs/newborn-screening/newborn-screening-program/phenylketonuria-pku

  PKU is inherited in an autosomal recessive pattern. […] Without treatment, children with PKU develop the classic symptoms of intellectual disability, behavior problems, light colored hair, seizures, eczema, a musty body odor and a small head size. […] Screening for PKU is accomplished by measuring phenylalanine (phe) by tandem mass spectrometry (MS/MS). […] Patients with an abnormal newborn screen for PKU are referred to an Inherited Metabolic Disorder Specialty Care Center for evaluation by a biochemical geneticist trained in the diagnosis and treatment of PKU. […] Treatment is typically dietary management, including careful monitoring of protein intake. Most people with PKU need to drink a special formula low in phenylalanine, but containing other essential amino acids. […] The symptoms of PKU are completely prevented in people on dietary therapy.

• #2 Phenylketonuria

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

  Phenylketonuria (PKU) is a rare but potentially serious inherited disorder. […] 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, most children with PKU are able to live healthy lives. […] The main treatment for PKU is a low-protein diet and controlled intake of many other foods, such as potatoes and cereals. […] In addition, people with PKU must take an amino acid supplement to ensure they’re getting all the nutrients required for normal growth and good health. […] If a high phenylalanine level is confirmed, a baby will immediately be started on a low-protein diet and amino acid supplements. […] 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.

• #2 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. […] If treatment is not started until after 2 to 3 years of age, it may only effectively control extreme hyperactivity and seizures, with limited impact on cognitive outcomes. […] 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. […] Regular follow-up visits and adherence to dietary guidelines are necessary to optimize long-term health and cognitive outcomes for individuals with PKU.

• #2 Phenylketonuria (PKU)

  https://www2.hse.ie/conditions/heel-prick-screening/conditions/phenylketonuria-pku/

  A dietitian will make a detailed plan for your child. This can be changed as they grow and their needs change. […] People with PKU must avoid food products with aspartame as it is converted into phenylalanine in the body. […] A child with PKU needs regular blood tests. This is to measure levels of phenylalanine and to see if they’re responding to treatment. […] It’s recommended that children: 6 months or younger have blood tests once a week; 6 months to 4 years have blood tests once every 2 weeks; 4 years and up have blood tests once a month. […] Someone with PKU will usually need to have regular blood tests throughout their life. […] In some cases, doctors may prescribe a medicine called sapropterin. This can help to break down phenylalanine so it will not build up in the blood.

• #2 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. […] 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.

• #2 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

  The fetal brain and heart are particularly vulnerable to high maternal concentrations of phenylalanine. […] If phenylalanine levels are maintained at 26 mg/dL before pregnancy or by 8 weeks of gestation, there is evidence to suggest a reduction in the fetal sequelae of hyperphenylalaninemia. […] Reduction of the maternal blood phenylalanine level to 10 mg/dL or less decreases the incidence of microcephaly from 73% to 8%. […] Breastfeeding is safe for infants born to women who have PAH deficiency provided the infants do not have PAH deficiency.

• #2 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

  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. […] 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.

• #2 Phenylketonuria (PKU) in Children | Cedars-Sinai

  https://www.cedars-sinai.org/health-library/diseases-and-conditions—pediatrics/p/phenylketonuria-pku-in-children.html

  Women with PKU who are of childbearing age should be careful to follow a strict low-protein diet. Your healthcare provider may advise genetic counseling. You can discuss with a counselor the risk for PKU in a future pregnancy. […] If you are a woman with PKU, your healthcare provider may advise genetic counseling. You can discuss with a counselor the risk of PKU in a future pregnancy.

• #2 New Strategies for the Treatment of Phenylketonuria (PKU)

  https://pmc.ncbi.nlm.nih.gov/articles/PMC4279156/

  Dietary treatment is monitored by frequent measurement of plasma/blood phenylalanine levels. […] The evidence to support the efficacy of LNAA supplementation to significantly reduce blood Phe levels in patients with PKU is still limited. […] In summary, treatment with sapropterin resulted in significant (at least 30%) and sustained reductions in blood Phe concentrations and increased dietary Phe tolerance in responsive PKU patients. […] Patients with PKU should still be treated with dietary therapy, but in the long term the introduction of a wide array of new treatment approaches such as more palatable foods based on the use of GMP products or the administration of LNAA or BH4 could decrease the need for phenylalanine restriction in the diet. […] Long-term outcome studies assessing efficacy and safety of GMP medical foods, BH4, LNAA supplementation and enzymatic therapy will be useful in providing the evidence allowing for standardization of management and will alternatively provide in a cost-effective way an individualized management plan for PKU patients.

• #2 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 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 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. But making a firm commitment to this lifestyle change is the only way to prevent the serious health problems that people with PKU can develop. […] 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. Some people with PKU who are taking the medication may not need to follow a PKU diet. But the drug doesn’t work for everyone with PKU.

• #2 What Are the Treatment Options for Phenylketonurea?

  https://phenylketonurianews.com/2020/04/30/what-are-the-treatment-options-for-phenylketonuria/

  Phenylketonuria (PKU) is a rare inherited metabolic disorder characterized by the buildup of an amino acid called phenylalanine (one of the building blocks of protein) in the body. […] If you or your child has been diagnosed with PKU, your doctor may recommend a special diet, enzyme replacement therapy, or medication. […] PKU is treated first with a low-protein diet. Normal infant formula and breast milk contain phenylalanine, so infants diagnosed with PKU require a low-phenylalanine formula. […] As your child grows, you must maintain this low-protein diet. […] Many patients are able to manage their disease with dietary changes. […] Palynziq(pegvaliase-pqpz) is an approved enzyme replacement therapy to treat adults with PKU. […] While taking Palynziq, patients still may need to remain on a low-phenylalanine diet. […] Kuvan (sapropterin dihydrochloride) is a medication that activates an enzyme that helps the PAH enzyme work better. […] Patients should use this medication in combination with a low phenylalanine diet, rather than as a substitute.

• #2 Phenylketonuria And Treatment Options – Klarity Health Library

  https://my.klarity.health/phenylketonuria-and-treatment-options/

  Monitoring blood phenylalanine levels, portion control, and lifelong adherence to the PKU diet are essential components of treatment. […] Education and support are crucial components of dietary management for PKU. Individuals with PKU and their families need to receive comprehensive education about the condition, dietary restrictions, meal planning, label reading, and other aspects of managing PKU.

• #2 Phenylketonuria Program (PKU) – Children’s Hospital of Orange County

  https://choc.org/programs-services/metabolic-disorders/phenylketonuria-pku-program/

  CHOC offers a dedicated and multidisciplinary program to diagnose and treat children with phenylketonuria (PKU), an inherited disease in which the body cannot metabolize a protein called phenylalanine. […] At CHOC, children with PKU receive comprehensive and coordinated treatment by a multidisciplinary team, including board-certified biochemical physicians and endocrinologists, genetic counselors, specialized dietitians, nurses and social workers. We offer this dedicated program so that we can provide better resources to the patient and family. […] A unique program for pregnant women with PKU to ensure that they receive the medical care and nutritional advice needed to sustain a healthy pregnancy. […] Children born with PKU will need to follow a special low-protein diet throughout their life.

• #2 Phenylketonuria: a review of current and future treatments – Al Hafid – Translational Pediatrics

  https://tp.amegroups.org/article/view/8125/html

  The establishment of newborn screening programs along with the prompt institution of dietary treatment has prevented intellectual disability, however, neurophysiological and neuropsychological impairments may still persist in treated PKU patients. Furthermore, there are often problems associated with dietary therapy, including nutritional deficiencies as well as non-compliance due to poor palatability. […] All of these findings suggest the need to develop novel interventions that may improve the outcome for patients with PKU.

• #2 Gene Therapy for PKU: Using Viral Vectors to Treat Phenylketonuria – American Gene Technologies

  https://www.americangene.com/pipeline/phenylketonuria-pku/

  We are committed to single-dose gene therapies that will provide permanent correction of the underlying defect in a safe and cost-effective manner. Our lentivirus vector program in PKU is designed specifically for these goals and is progressing rapidly towards clinical development. […] Advocacy and financial support are very important for sustaining research and development on new treatments for PKU. Advocates will play critical roles in recruitment for clinical trials and may contribute to understanding the risk benefit analysis for genetic medicines.

• #2 Phenylketonuria (PKU) – Child Neurology Foundation

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

  Phenylketonuria (PKU) occurs when the body cannot break down a specific amino acid. Amino acids are the building blocks of protein in the body. The particular amino acid involved with PKU is called phenylalanine (Phe). […] PKU was the first disorder screened in newborns. Newborn screening and early treatment have prevented permanent brain injury and disability in children with PKU. […] 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. […] 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.

• #2 Phenylketonuria (PKU)

  https://lakecountyin.gov/departments/health/nursing-clinic/diseases-and-conditions/genetic-disorders/phenylketonuria-pku

  Early detection and management are crucial for preventing the adverse effects of PKU. […] Genetic testing can identify carriers of the PAH gene mutation and help assess the risk of having a child with PKU. […] Early diagnosis and strict management are essential for preventing the adverse effects of PKU. […] Individuals with PKU must follow a lifelong diet low in phenylalanine, avoiding high-protein foods such as meat, dairy, eggs, and nuts. […] Regular follow-ups with a healthcare team including dietitians, geneticists, and pediatricians to manage dietary needs and monitor health. […] Adhering to a low-phenylalanine diet requires careful planning and monitoring, often involving consultation with a dietitian. […] Early diagnosis through newborn screening, strict dietary management, and regular monitoring are essential for preventing the adverse effects of the disease.

• #2 About PKU | NPKUA

  https://www.npkua.org/about-pku/

  PKU is typically diagnosed in the U.S. in the first few days of life through the federally mandated Newborn Screening Program. […] Standard treatment of PKU typically consists of following a diet low in Phe and consuming medical foods, including medical formula. […] It is recommended to maintain a low protein diet for the lifetime of an individual with PKU. While new food products, strategies, and management tools are being developed, this is a lifelong challenge. […] Starting treatment early and rigorously adhering to it can lead to normal development. […] Medical foods are considered an essential part of the standard of care for individuals with PKU.

• #3 Phenylketonuria (PKU)

  https://www2.hse.ie/conditions/heel-prick-screening/conditions/phenylketonuria-pku/

  Women with PKU have to take special care during pregnancy. This is because high levels of phenylalanine can hurt an unborn baby. […] If phenylalanine levels are controlled problems can be avoided. Women with PKU are able to have normal, healthy babies. […] It’s recommended that you plan your pregnancy carefully. Follow a strict diet and check your blood twice a week before trying to become pregnant. You should try to conceive when phenylalanine levels are within the target range for pregnancy. […] Contact your doctor or dietitian as soon as possible if you get pregnant when your phenylalanine levels are not controlled. If you can bring them down within the first few weeks of your pregnancy, the risk of damage to the baby should be small.

• #3 Current Guidelines From the ACMG | KUVAN (for HCP)

  https://www.kuvan.com/hcp/about-kuvan/treatment-guidelines-summary/

  Start treatment early. […] Treat PKU for life. […] Maintain tight Phe control. […] Always consider a trial of KUVAN (sapropterin dihydrochloride) Tablets or Powder for Oral Solution. […] Restart therapy. […] Treatment with KUVAN should be directed by physicians knowledgeable in the management of PKU. […] The use of KUVAN does not eliminate the need for careful monitoring of blood Phe levels and ongoing dietary management to ensure adequate Phe control and nutritional balance. […] Active management of dietary Phe intake and frequent blood Phe monitoring while taking KUVAN is required to ensure adequate Phe control and nutritional balance, especially in the pediatric population.

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