Materiały źródłowe

• #1 The Genetic Landscape and Epidemiology of Phenylketonuria

  https://pmc.ncbi.nlm.nih.gov/articles/PMC7413859/

  Phenylketonuria (PKU), caused by variants in the phenylalanine hydroxylase (PAH) gene, is the most common autosomal-recessive Mendelian phenotype of amino acid metabolism. We estimated that globally 0.45 million individuals have PKU, with global prevalence 1:23,930 live births (range 1:4,500 [Italy]1:125,000 [Japan]). Comparing genotypes and metabolic phenotypes from 16,092 affected subjects revealed differences in disease severity in 51 countries from 17 world regions, with the global phenotype distribution of 62% classic PKU, 22% mild PKU, and 16% mild hyperphenylalaninemia. […] PKU is one of the most frequent inherited disorders in Europeans, with an incidence of roughly 1:10,000 live births in the USA, although the prevalence of PKU varies significantly among ethnicities and geographic regions worldwide. In Europe, the incidence of PKU ranges from 1:850 in the Karachay-Cherkess Republic (Russia) to only 1:112,000 live births in Finland. PKU occurs less often in Japan, with an incidences of 1:125,000.

• #2 Phenylketonuria | Nature Reviews Disease Primers

  https://www.nature.com/articles/s41572-021-00267-0

  Phenylketonuria (PKU; also known as phenylalanine hydroxylase (PAH) deficiency) is an autosomal recessive disorder of phenylalanine metabolism, in which especially high phenylalanine concentrations cause brain dysfunction. The prevalence varies worldwide, with an average of about 1:10,000 newborns. […] Early diagnosis is based on newborn screening, and if treatment is started early and continued, intelligence is within normal limits with, on average, some suboptimal neurocognitive function. […] Even though PAH deficiency is the most common defect of amino acid metabolism in humans, brain dysfunction in individuals with PKU is still not well understood and further research is needed to facilitate development of pathophysiology-driven treatments.

• #2 The Genetic Landscape and Epidemiology of Phenylketonuria

  https://pmc.ncbi.nlm.nih.gov/articles/PMC7413859/

  The lowest PKU prevalence was reported in Asian countries, such as Thailand (1:227,273), Japan (1:125,000), Philippines (1:116,006), or Singapore (1:83,333). One exception was China where the PKU prevalence was 1:15,924, which was comparable to Europe. […] The aim of this study was to elucidate the prevalence of PKU and distribution of causative PAH variants worldwide and in different countries. We provided a rough estimation of global PKU prevalence by calculating the number of affected patients for countries based on the provided PKU prevalence and the total population in 2018. Overall, it appears that there are about 0.45 million PKU-affected individuals worldwide, of whom at least two thirds have PKU that requires treatment (most subjects had a severe, cPKU phenotype).

• #3 Genetic etiology and clinical challenges of phenylketonuria | Human Genomics | Full Text

  https://humgenomics.biomedcentral.com/articles/10.1186/s40246-022-00398-9

  This review discusses the epidemiology, pathophysiology, genetic etiology, and management of phenylketonuria (PKU). The prevalence of PKU varies widely among ethnicities and geographic regions, affecting approximately 1 in 24,000 individuals worldwide. […] The prevalence of PKU varies widely among ethnicities and geographic regions. Worldwide, PKU has an estimated prevalence of 1 in 23,930 live births and affects about 0.45 million individuals, of whom at least two-thirds require treatment. […] In terms of ethnicity, prevalence is generally highest in White or East Asian populations (1 in 10,000-15,000 live births). […] The extremely high prevalence in some populations/regions may be attributed to high rates of consanguineous marriage and genetic drift/migration, especially in Arab Gulf countries, the Middle East, and the Orient. […] The prevalence in South America varies from 1:25,000 to 50,000 live births, with a lower prevalence in the northern than in the southern part of the continent.

• #4 The Genetic Landscape and Epidemiology of Phenylketonuria

  https://www.zora.uzh.ch/id/eprint/194383/

  Phenylketonuria (PKU), caused by variants in the phenylalanine hydroxylase (PAH) gene, is the most common autosomal-recessive Mendelian phenotype of amino acid metabolism. We estimated that globally 0.45 million individuals have PKU, with global prevalence 1:23,930 live births (range 1:4,500 [Italy]1:125,000 [Japan]). […] Comparing genotypes and metabolic phenotypes from 16,092 affected subjects revealed differences in disease severity in 51 countries from 17 world regions, with the global phenotype distribution of 62% classic PKU, 22% mild PKU, and 16% mild hyperphenylalaninemia. […] The frequency of classic PKU increases from Europe (56%) via Middle East (71%) to Australia (80%). […] This study shows that large genotype databases enable accurate phenotype prediction, allowing appropriate targeting of therapies to optimize clinical outcome.

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

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

  The frequency of PKU as reported by newborn screening programs varies between one in 13,500 to 19,000 newborns in the United States. While PKU can impact individuals from diverse ethnic backgrounds, it is less common in Americans of African descent and Ashkenazi Jews. […] Phenylketonuria (PKU) frequency varies across populations, with a range of occurrences reported worldwide. In Turkey and Ireland, the frequency is more than 1 in 5000, while individuals of northern European and East Asian origin have a frequency of approximately 1 in 10,000. Specific high incidences have been documented in various regions, including Turkey (approximately 1 case in 2600 births), Yemenite Jewish population (1 in 5300), Scotland (1 in 5300), Estonia (1 in 8090), Hungary (1 in 11,000), and several other countries. Conversely, Finland reports a low incidence of less than 1 in 100,000, along with Japan at 1 in 125,000.

• #6 Overview of phenylketonuria – UpToDate

  https://www.uptodate.com/contents/overview-of-phenylketonuria

  Phenylketonuria (PKU; MIM #261600) is a disorder affecting the aromatic amino acid, phenylalanine. It results from a deficiency of phenylalanine hydroxylase (PAH) and, if untreated, results in irreversible intellectual disability among other clinical symptoms. […] The prevalence of PKU is the highest in European and East Asian populations, occurring in approximately 1:10,000 to 1:15,000 live births. Some European countries may show a higher prevalence (Italy, Ireland 1:2700 to 1:4500) compared with others (Finland 1:100,000). Most cases of PKU worldwide are caused by phenylalanine hydroxylase (PAH) deficiency.

• #7 Phenylketonuria Complications – Klarity Health Library

  https://my.klarity.health/phenylketonuria-complications/

  Phenylketonuria’s prevalence varies greatly around the globe. Approximately one instance per 10,000 live births occurs in Europe, yet in some regions of the continent, the rate is higher. Due to high levels of consanguinity in the community, persistent hyperphenylalaninemia is found in roughly one out of every four thousand newborns in Northern Ireland and Turkey. […] With one instance per 100,000 people, Finland has the lowest frequency in all of Europe. One case per 15,000 people is the prevalence in the USA. The frequency in Latin America ranges from roughly one case per 50,000 to one per 25,000 births; it is often higher in the southern part of the continent than in the other parts. […] Prevalence rates in Asia are estimated to range from approximately one per 15,000 to one per 100,000 births in some areas of China, less than one per 200,000 in Thailand, and approximately one per 70,000 births in Japan. Phenylketonuria seems to be extremely rare in Africa, but moderate hyperphenylalaninemia is particularly common in Spain.

• #8 Orphanet: Phenylketonuria

  https://www.orpha.net/en/disease/detail/716

  A rare inborn error of amino acid metabolism characterized by elevated blood phenylalanine and low levels or absence of phenylalanine hydroxylase enzyme. If not detected early or left untreated, the disorder manifests with mild to severe mental disability. […] The prevalence of phenylketonuria (PKU) shows considerable geographic variation. It is estimated to be 1/10,000 live births in Europe with a higher rate in some countries (Ireland, Italy). Prevalence is particularly high in Turkey: 1/4,000 live births. PKU is far rarer in the Finnish, African and Japanese populations. […] The disorder is usually diagnosed through neonatal screening programs. […] Transmission is autosomal recessive. Genetic counseling should be offered to at-risk couples (both individuals are carriers of a disease-causing mutation) informing them of the 25% risk of having an affected child at each pregnancy.

• #9 Global prevalence of classic phenylketonuria based on Neonatal Screening Program Data: systematic review and meta-analysis

  https://e-cep.org/journal/view.php?number=20125553578

  Phenylketonuria is a disease caused by congenital defects in phenylalanine metabolism that leads to irreversible nerve cell damage. […] The present study aimed to determine the worldwide prevalence of classic phenylketonuria using the data of neonatal screening studies. […] A total of 53 studies with 119,152,905 participants conducted in 19642017 were included in this systematic review. […] The overall worldwide prevalence of the disease is 6.002 per 100,000 neonates (95% confidence interval, 5.076.93). […] Heterogeneity in the worldwide prevalence of phenylketonuria is high, possibly due to differences in factors affecting the disease, such as consanguineous marriages and genetic reserves in different countries, study performance, diagnostic tests, cutoff points, and sample size. […] The highest prevalence (38.13) was reported in Turkey, while the lowest (0.3) in Thailand.

• #10 Phenylketonuria

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

  About 1 in 10,000 babies born in the UK has PKU. […] 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. […] Many adults with PKU find they function best while on a low-protein diet. […] Women with PKU must take particular care during pregnancy, as high levels of phenylalanine can damage their unborn baby. […] 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. […] If you or your child has PKU, your clinical team will pass on information about you to the National Congenital Anomaly and Rare Diseases Registration Service (NCARDRS).

• #11 Phenylketonuria – Wikipedia

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

  Phenylketonuria affects about 1 in 12,000 babies. […] The average number of new cases of PKU varies in different human populations. United States Caucasians are affected at a rate of 1 in 10,000. […] Turkey has the highest documented rate in the world, with 1 in 2,600 births, while countries such as Finland and Japan have extremely low rates with fewer than one case of PKU in 100,000 births. […] A 1987 study from Slovakia reports a Roma population with an extremely high incidence of PKU (one case in 40 births) due to extensive inbreeding. […] It is the most common amino acid metabolic problem in the United Kingdom.

• #12 Phenylketonuria – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK535378/

  The overall incidence of PKU in the United States is about 1/15,000. This incidence is greater for Caucasian and Native American populations and less for African American, Hispanic and Asian populations. There is a large worldwide variation in PKU incidence. In Turkey, the incidence is particularly high with 1/4000 live births. […] PKU in the United States is detected by the state newborn screening program which measures the Phe/Tyr molar ratio on a filter paper blood spot (from a heal prick) by tandem mass spectrometry (MS/MS). This test is usually done 1 or 2 days after birth. […] Because of its high morbidity, healthcare workers including nurse practitioners must be aware of the screening test available to identify this disorder. In the United States, PKU is usually detected at birth by newborn screening tests and dietary therapy started in consultation with a dietitian and geneticist/metabolism specialist.

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

  https://emedicine.medscape.com/article/945180-overview

  The frequency of PKU as reported by newborn screening programs varies between one in 13,500 to 19,000 newborns in the United States. While PKU can impact individuals from diverse ethnic backgrounds, it is less common in Americans of African descent and Ashkenazi Jews. […] Phenylketonuria (PKU) frequency varies across populations, with a range of occurrences reported worldwide. In Turkey and Ireland, the frequency is more than 1 in 5000, while individuals of northern European and East Asian origin have a frequency of approximately 1 in 10,000. Specific high incidences have been documented in various regions, including Turkey (approximately 1 case in 2600 births), Yemenite Jewish population (1 in 5300), Scotland (1 in 5300), Estonia (1 in 8090), Hungary (1 in 11,000), and several other countries. Conversely, Finland reports a low incidence of less than 1 in 100,000, along with Japan at 1 in 125,000.

• #14 Phenylketonuria (PKU): Symptoms, Causes & Treatment

  https://my.clevelandclinic.org/health/diseases/17816-phenylketonuria

  Phenylketonuria (PKU) can affect anyone who has mutations in both copies of the PAH gene. Studies suggest that there’s a higher risk among people of Native American or European descent. […] In the United States, phenylketonuria (PKU) affects an estimated 1 in every 10,000 to 15,000 newborns each year.

• #15 About PKU | NPKUA

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

  PKU is a rare metabolic disease thats inherited when a baby gets two genetic variants for PKU, one from each parent. […] PKU is typically diagnosed in the U.S. in the first few days of life through the federally mandated Newborn Screening Program. […] 1 out of every 25,000 people in the U.S. are living with PKU*. That means there are currently estimated to be about 13,500 individuals with PKU living in the U.S. as of 2024.

• #16 The Genetic Landscape and Epidemiology of Phenylketonuria

  https://pmc.ncbi.nlm.nih.gov/articles/PMC7413859/

  The major goal of this study was the analysis of a large database of PKU phenotype and genotype to elucidate the current distribution of PKU worldwide and to create an overview of the severity of PAH variants, genotypes, and the resulting phenotypes, in various geographic regions and respective countries. […] Based on the literature search and reports from national screening centers, the prevalence of PKU was estimated for 64 countries. […] The estimated total number of PKU subjects (all phenotypes) from those 64 countries in 2018 was 360,466. […] The global PKU prevalence was estimated to be 1:23,930 newborns. […] The PKU prevalence was highest in European and certain Middle Eastern populations. […] PKU occurred more frequently in Canada (1:15,000) than in the United States of America (1:25,000) or in Latin American countries, e.g., Argentina (1:15,715), Chile (1:19,231), Brazil (1:25,000), Mexico (1:27,778), or Peru (1:46,970).

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

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

  Babies in the United States and many other countries are screened for PKU soon after birth. […] Risk factors for inheriting PKU include: […] PKU affects people from most ethnic backgrounds worldwide. But in the United States, it’s most common in people of European ancestry and much less common in people of African ancestry. […] Untreated PKU can lead to complications in infants, children and adults with the disorder. When women with PKU have high blood phenylalanine levels during pregnancy, it can harm their unborn baby. […] If you have PKU and are considering getting pregnant: […] A gene change (genetic mutation) causes PKU, which can be mild, moderate or severe. In a person with PKU, a change in the phenylalanine hydroxylase (PAH) gene causes a lack of or reduced amount of the enzyme that’s needed to process phenylalanine, an amino acid.

• #18

  https://omim.org/entry/261600

  Phenylketonuria (PKU) occurs in about 1 in 10,000 births. […] The disorder is rare in Ashkenazi Jews. […] The frequency at birth in northern Europeans may be about 1 per 10,000. […] In Kuwait, 7 cases of PKU were found among 451 institutionalized mentally retarded persons (1.9%). […] Saugstad determined the frequency and distribution of PKU in Norway and concluded that the PKU gene was probably of Celtic origin. […] From the increase in frequency of parental consanguinity, the frequency of PKU in Italy is estimated to be between 1 in 15,595 and 1 in 17,815. […] DiLella cited an incidence of 1 per 4,500 in Ireland and 1 per 16,000 in Switzerland with an average incidence of about 1 per 8,000 in U.S. Caucasians. […] Guttler and Woo identified 12 different haplotypes in Danish PKU families.

• #19 OBM Genetics | Phenylketonuria—Past, Present, and Future Directions

  https://www.lidsen.com/journals/genetics/genetics-08-03-256

  Phenylketonuria (PKU) is an autosomal recessive inborn error of metabolism with an incidence that varies throughout the world. […] The incidence of PKU varies throughout the world. The worldwide estimate of PKU is around 1 in 23,930 newborns. […] In the USA, 1 in 13,500-25,000 newborns has PKU while the African American population exhibits one of the lower rates of PKU at 1 in 50,000 individuals. […] In Europe, the estimate ranges from 1 in 2,700-4,500 live births in Italy and Ireland to 1 in 100,000 live births in Finland. […] Throughout the world, Asia has the lowest rates of PKU: Thailand (1 in 227,273), Japan (1 in 125,000), Philippines (1 in 116,006), and Singapore (1 in 83,333). […] However, China is the exception where the estimate is 1 in 15,924. […] In contrast, the highest rates of this disorder have been seen in the following populations: Turkey (1 in 6,667), Yemenite Jews in Israel and Scotland (1 in 6,600), Arabic populations (up to 1 in 14,493), and Czechoslovakia (1 in 5,521).

• #20 Epidemiology of Phenylketonuria Disease in Jordan: Medical and Nutritional Challenges

  https://www.mdpi.com/2227-9067/9/3/402

  Epidemiology of Phenylketonuria Disease in Jordan: Medical and Nutritional Challenges […] Background: Phenylketonuria (PKU) is the most frequent inborn error in amino acid metabolism caused by a deficiency of the phenylalanine hydroxylase enzyme (PAH). […] Data concerning the epidemiology of PKU in Jordan are limited. The main objectives of our study were to determine the prevalence of PKU in Jordan, analyze the PKU phenotypes, and identify major challenges in providing dietary management to PKU patients. […] The total number of patients diagnosed with PKU was 294. The prevalence of PKU was estimated to be 1/5263. […] More than half of the patients (56%) were diagnosed through the national newborn screening (NBS) program. […] The prevalence of PKU in Jordan is estimated to be 1/5263. […] Since 2008, when the NBS program was established in Jordan, 171 PKU patients (58%) born after 2008 were diagnosed compared with 120 patients (41%) born before 2008. […] These results indicate the importance of the NBS in the early identification and diagnosis of new cases, as well as providing proper dietary management to prevent PKU complications. […] Our study demonstrated a high prevalence of PKU in Jordan (1 in 5263). […] The high rate of consanguineous marriages may explain this high prevalence. […] The NBS program aims to screen for congenital and heritable disorders. […] According to our results, more than half of the PKU patients were detected through the NBS program (56%). […] The high rate of consanguineous marriages in Jordan has increased autosomal recessive conditions, including inborn errors in metabolism. […] The prevalence of PKU differs significantly between different ethnic groups and countries worldwide (1:4500 in Italy, 1:125,000 in Japan). […] Information about the prevalence of PKU is lacking in Jordan. […] The main objectives of our study were to determine the prevalence of PKU in Jordan; the phenotypes, gender, and geographic distribution of PKU cases; the relationship between consanguinity marriages and affected patients; the dietary challenges for PKU patients; and finally, the role of the NBS program in detecting PKU among newborns in Jordan.

• #21 Phenylketonuria – CAGS

  https://cags.org.ae/en/ctga-details/478/phenylketonuria

  Al-Hosani et al. (2003) performed a study to evaluate the progress of the UAE national newborn screening program and to determine the incidence of phenylketonuria (PKU) in the UAE. Over a period of six years, 13,8718 newborns were screened and of those, seven confirmed PKU cases were detected with an incidence 1:20050 for PKU.

• #22 Global prevalence of classic phenylketonuria based on Neonatal Screening Program Data: systematic review and meta-analysis

  https://e-cep.org/journal/view.php?number=20125553578

  Since PKU has autosomal recessive inheritance, consanguineous marriage is an important risk factor; thus, countries with a high prevalence of consanguineous marriages have high disease prevalence. […] PKU varies among ethnic groups, races, and geographic regions. […] Despite numerous studies conducted in various countries on PKU prevalence using screening programs, no study has systematically compared the prevalence of PKU across regions and countries or sources of heterogeneity. […] The highest prevalence was found in Turkey (38.13), followed by Iran, with a prevalence of 21.28 per 100,000 neonates, while the lowest prevalence was reported in studies conducted in Thailand (0.3) and Taiwan (0.44). […] This difference in the prevalence may be due to differences in the number of consanguineous marriages among the different regions, phenylalanine cutoff points, and sample sizes.

• #23 Phenylketonuria (PKU) Screening: MedlinePlus Medical TestLock

  https://medlineplus.gov/lab-tests/phenylketonuria-pku-screening/

  PKU is rare. For a child to inherit PKU, both parents must pass down a changed gene. But all newborns in the United States are required to get a PKU test. That’s because: […] A PKU test is used to see if a newborn has high blood levels of Phe in their blood. This may mean the baby has PKU. More tests may be needed to confirm or rule out a diagnosis. […] Newborns in the United States are required to get a PKU test. A PKU test is usually part of a series of tests called a newborn screening. Some older infants and children may need testing if they were born in another country. […] If you and your baby’s other parent each have one changed gene for PKU, your baby could inherit two changed genes and be born with the disease. […] A prenatal screening test can show whether your baby may have PKU.

• #24

  https://omim.org/entry/261600

  In Denmark, 89% of families were accounted for by 4 RFLP haplotypes. […] The frequency of PKU in U.S. blacks is about 1 in 50,000, or one-third that in whites. […] Among 140 unrelated Iranian patients with classic PKU, 34 different mutations were identified, the most prevalent being IVS10nt546 and P281L.

• #25 Phenylketonuria Incidence based on the Results of the Neonatal Screening Program and Evaluation of this Program-based Surveillance Data System in Sirjan City from 2012 to 2019

  https://openpublichealthjournal.com/VOLUME/17/ELOCATOR/e18749445275987/FULLTEXT/

  The present study found that 83.3% of the patients’ parents were consanguineous, which is consistent with other studies conducted in Iran. […] The coverage of screening within the population under coverage was found to be favorable. However, there was a decreasing trend in performing the screening on time, which necessitates special attention and interventions to increase this index.

• #26 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. […] If you have PKU or a family history of it, your health care provider may recommend screening tests before pregnancy or birth. It’s possible to identify PKU carriers through a blood test. […] Phenylketonuria is generally diagnosed through newborn screening. Once your child is diagnosed with PKU, you’ll likely be referred to a medical center or specialty clinic with a specialist who treats PKU and a dietitian with expertise in the PKU diet.

• #27 Phenylketonuria | healthdirect

  https://www.healthdirect.gov.au/phenylketonuria

  Phenylketonuria is a rare genetic disorder where your body can’t break down protein properly. […] All babies born in Australia are tested for PKU soon after birth. […] PKU is diagnosed through a routine newborn screening test. In Australia, all babies are tested for PKU shortly after birth using a blood sample taken from a heel prick. […] PKU cannot be prevented because it is a genetic disorder. However, the risk of complications may be reduced by following a strict low-protein diet.

• #28 The Prevalence and Incidence of Congenital Phenylketonuria in 59 Countries: A Systematic Review – Journal of Pediatrics Review

  https://jpr.mazums.ac.ir/browse.php?a_id=352&sid=1&slc_lang=en&html=1

  Phenylketonuria (PKU) is the most frequent inborn error of amino acid metabolism affecting about 1 per 10000 Caucasians. […] Due to the approximate high rate of consanguineous marriage in developing countries, like Iran, it is predicted that the frequency of PKU will grow higher. […] The prompt diagnosis of PKU after birth can lead to the prescription of a low Phe diet, which can prevent the irreversible Intellectual Disability (ID). […] Although PKU screening in newborns is being performed in various developed countries, in Iran, it has been started in 2007. […] This systematic review explored the prevalence of PKU in different countries from January 2007 to December 2018. […] We identified 44 studies addressing the prevalence of PKU in 59 countries, including 15 Asian, 36 European, two African, and 6 American countries.

• #29 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. […] 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.

• #30 The Prevalence and Incidence of Congenital Phenylketonuria in 59 Countries: A Systematic Review – Journal of Pediatrics Review

  https://jpr.mazums.ac.ir/browse.php?a_id=352&sid=1&slc_lang=en&html=1

  The selected reports were published between January 2007 to December 2018. […] The incidence of PKU in Iran in 1982 was estimated as 0.011%; however, this rate had raised to 0.02757% in 2002, and it had later reduced to 0.02% of live births in 2015. […] Extensive studies are available on the prevalence of PKU in Iran. […] The frequency of PKU was highly prevalent in Iran (0.02%), particularly in Fars Province with a prevalence of 0.01597% from 2004 to 2007. […] In Lebanon from 1998 to 2007, only 18 cases of PKU variants were detected by screening 143000 newborns (0.01258%); after introducing expanded NBS by MS/MS in 2007, the incidence of PKU equaled 0.02613%. […] The prevalence of PKU in Egypt was evaluated as 0.01978% of infants in 2008; by 2013 this rate reduced to 0.00909%. […] In 2005, Buenos Aires in Argentina (0.03333%) possessed the highest, and Cuba (0.00191) had the lowest rate of PKU incidence among Latin American countries. […] Overall, the prevalence of PKU worldwide in 2015 was claimed to be 0.00641% of live births. […] This review aimed to report the PKU prevalence in different countries to raise awareness and leads to establishing an efficient NBS program.

• #31 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. […] The occurrence of PKU varies among ethnic groups and across geographic regions worldwide. In the United States, PKU occurs in 1 in 25,000 newborns. Most cases of PKU are detected shortly after birth by newborn screening, and treatment is started promptly. As a result, the severe signs and symptoms of classic PKU are rarely seen.

• #32 Phenylketonuria (PKU) – Pediatrics – Merck Manual Professional Edition

  https://www.merckmanuals.com/professional/pediatrics/inherited-disorders-of-metabolism/phenylketonuria-pku

  Phenylketonuria (PKU) may occur in all ethnic groups, but prevalence varies widely among different geographic regions. Inheritance is autosomal recessive; incidence is approximately 1/10,000 births among White people and East Asian populations (1). […] In the United States and many other countries, all neonates are screened for phenylketonuria 24 to 48 hours after birth with one of several blood tests; abnormal results are confirmed by directly measuring phenylalanine levels. […] Treatment is lifelong dietary phenylalanine restriction; adequate treatment begun in the first days of life prevents many manifestations of the disease. […] Although prognosis is excellent with treatment, frequent monitoring of plasma phenylalanine levels is required; recommended targets are between 2 mg/dL and 6 mg/dL (120 to 360 micromol/L) for all children.

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

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

  Phenylketonuria most commonly is diagnosed in neonates because of universal newborn screening programs. However, for individuals born before the advent of universal newborn screening, or born in countries where newborn screening for PKU is not established, PKU can present in an individual of any age and background. […] PKU can occur in either sex with equal frequency. […] Elevated phenylalanine levels are highly teratogenic. People with PKU who are pregnant must be monitored closely during pregnancy to maintain Phe levels within the recommended therapeutic range of 120-360 umol/L. Persistently elevated Phe levels during pregnancy has been associated with microcephaly, brain malformations, limb malformations, congenital heart defect, or other congenital anomalies.

• #34 Newborn Screening Program – Phenylketonuria

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

  PKU and hyperphenylalaninemia occur in one of every 12,000 births. […] Since 1965, Illinois has identified more than 600 cases of PKU and related disorders through the Newborn Screening Program. […] These disorders are inherited in an autosomal recessive pattern. […] All siblings of infants diagnosed with PKU or hyperphenylalaninemia should be tested; genetic counseling services should be offered to the family.

• #35 Phenylketonuria (PKU) Disease

  https://www.verywellhealth.com/phenylketonuria-pku-disease-2860816

  Phenylketonuria is a treatable disease that can easily be detected by a simple blood test. In the United States, all newborn babies are required to be tested for PKU disease as part of metabolic and genetic screening done on all newborns. […] Each year 10,000 to 15,000 babies are born with the disease in the United States and Phenylketonuria occurs in both males and females of all ethnic backgrounds (although it is more common in individuals of Northern European and Native American heritage.) […] Studies looking at compliance (the number of people who follow their diet and meet these guidelines) is at 88 percent for children between birth and age four, but only 33 percent in those who are age 30 and over. […] PKU is a genetic disorder that is passed down from parents to children. To have PKU, a baby has to inherit a specific gene mutation for PKU from each parent.

• #36 Phenylketonuria from the perspectives of patients in Türkiye | Orphanet Journal of Rare Diseases | Full Text

  https://ojrd.biomedcentral.com/articles/10.1186/s13023-024-03079-z

  The burden caused by the treatment of a disease starting just after birth and lasting for life has an impact on social life and quality of life of both patients and their families. […] It has been reported that individuals who are likely to discontinue treatment can be identified early and measures that would provide continuity of treatment can be taken in order to enhance the patients adherence to treatment and monitoring programs. […] The prevalence of comorbidity is higher in PKU patients as compared to the general population, and evaluation in terms of comorbidity should be a part of disease management particularly in adult patients.

• #37 Phenylketonuria (PKU) Disease

  https://www.verywellhealth.com/phenylketonuria-pku-disease-2860816

  If both parents are carriers of the PAH gene with a mutation, their child has a 25% chance of being born with PKU. […] Young women with phenylketonuria who do not eat a phenylalanine-restricted diet will have high levels of phenylalanine when they become pregnant. This can lead to serious medical problems known as PKU syndrome for the child, including mental retardation, low birth weight, heart birth defects, or other birth defects. However, if the young woman resumes a low-phenylalanine diet at least 3 months prior to pregnancy, and continues on the diet throughout her pregnancy, PKU syndrome can be prevented.

• #38 Phenylketonuria (PKU) – Children’s Health Issues – Merck Manual Consumer Version

  https://www.merckmanuals.com/home/children-s-health-issues/hereditary-metabolic-disorders/phenylketonuria-pku

  Phenylketonuria is a disorder of amino acid metabolism that occurs in infants born without the ability to normally break down an amino acid called phenylalanine. […] Phenylketonuria is usually diagnosed with a routine newborn screening test. […] PKU occurs in most ethnic groups. […] Parents and siblings of children with PKU can be tested to find out whether they carry the gene that causes the disease. […] Children who are treated in the first few days of life do not develop the severe symptoms of phenylketonuria. […] A phenylalanine-restricted diet should continue for life, or intelligence may decrease and neurologic and mental problems may ensue. […] Children who are born to mothers who have poorly controlled PKU (that is, they have high phenylalanine levels) during pregnancy are at high risk of developing an abnormally small head (microcephaly) and developmental problems.

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

  https://emedicine.medscape.com/article/945180-overview

  PKU can occur in either sex with equal frequency. Elevated phenylalanine levels are highly teratogenic. People with PKU who are pregnant must be monitored closely during pregnancy to maintain Phe levels within the recommended therapeutic range of 120-360 umol/L. Persistently elevated Phe levels during pregnancy has been associated with microcephaly, brain malformations, limb malformations, congenital heart defect, or other congenital anomalies.

• #40 Prevalence of Overweight and Obesity in Children Diagnosed with Phenylketonuria

  https://brieflands.com/articles/jcp-136499

  Growing evidence suggests a higher occurrence of overweight and obesity in children diagnosed with phenylketonuria (PKU), yet the exact cause is still unknown. […] The objective is to address the prevalence of overweight and obesity in children with PKU. […] In the study group, 57.44% were males, and 42.55% were females, with no significant gender difference observed. […] Most participants (n = 26, 55.3%) were overweight or obese. […] Children with PKU have a high prevalence of overweight and obesity, emphasizing the importance of obesity screening in this population. […] Concerning children with PKU, several reports suggest an elevated BMI in PKU patients compared to normally developing children, although the underlying causes remain a topic of debate. […] Previous studies have reported increased rates of malnutrition disorders in children with PKU.

• #41 Prevalence of Overweight and Obesity in Children Diagnosed with Phenylketonuria

  https://brieflands.com/articles/jcp-136499

  Our study aims to address these gaps. […] Its objective is to determine the prevalence of obesity and overweight in children diagnosed with PKU and establish correlations between their nutritional status, PHE levels, and lipid profiles. […] The main goal was to assess the prevalence of overweight and obesity among children diagnosed with PKU. […] The majority of the study participants (n = 34, 72.3% of enrolled children) were malnourished, with a higher incidence of overweight and obesity (n = 26, 55.3% of participants). […] Malnutrition, particularly overweight and obesity, appears to be a significant concern in children with PKU.

• #42 Phenylketonuria from the perspectives of patients in Türkiye | Orphanet Journal of Rare Diseases | Full Text

  https://ojrd.biomedcentral.com/articles/10.1186/s13023-024-03079-z

  Phenylketonuria (PKU) is an autosomal recessive metabolic disease. Despite the variations across the world, the prevalence of PKU is approximately 1/10.000 newborns. […] Trkiye is one of the countries where PKU is the most prevalent. The data from the Ministry of Health have revealed that one of each 4.500 neonates is born with PKU and it is estimated that approximately 200 new babies with PKU join the community each year. […] The frequency of blood testing for serum phenylalanine level according to the age groups was appropriate in nearly half of the patients. […] It was determined that nearly half of the patients had trouble in accessing the metabolism center. […] Access to the services should be easier to improve the patients follow-up and treatment. […] There is need for low-cost, easily applicable, and accessible nutrition products and effective novel pharmacological agents.

• #43 Prevalence of Phenylketonuria – How Common Is PKU Worldwide?

  https://phenylketonurianews.com/2020/12/17/prevalence-of-phenylketonuria/

  While the two studies did not agree on exact prevalence, they both did note a trend that showed that the highest PKU prevalence was in Europe and around the Mediterranean and the lowest was in Southeast Asian countries. […] The two studies had differing estimates of the prevalence of PKU both globally and per country. […] A large number of countries adopted newborn screening for PKU, in which infants are tested for the disorder in the first days of life. This test, which involves collecting a few drops of blood, usually from the baby’s heel, has been an integral part of the ability to estimate the prevalence of PKU across different countries. However, not all countries require such screening, which can limit the data.

• #44 PKU Diagnosis | Phenylalanine Hydroxylase (PAH) Deficiency

  https://hcp.biomarin.com/en-us/pku/overview/

  Phenylketonuria (PKU) is an autosomal recessive inborn error of phenylalanine (Phe) metabolism, which can have significant neurodevelopment sequelae. […] PKU may be under-diagnosed as some countries have no screening or have only recently adopted newborn screening.

• #45 Better monitoring of phenylketonuria, PKU, with Capitainer

  https://capitainer.com/publication-highlight-pku-monitoring/

  A recent study carried out in the UK compared three commercially available volumetric blood collection devices with conventional dried blood spot cards for accuracy and precision, and applicability in the clinical laboratory. The study found that volumetric devices were superior to conventional DBS cards on all parameters tested, and Capitainer is the chosen device for implementation in monitoring of phenylketonuria. […] Because early dietary restriction of Phe has led to greatly improved outcomes for people living with PKU, screening and detection in the first few days after birth and long-term monitoring are critical components of PKU care. […] The main findings from the study are that for Phe and Tyr analysis, the three volumetric collection devices outperformed the conventional DBS cards with respect to effect of blood volume applied, impact of Hct effect, bias and imprecision. […] In summary, the findings of this study clearly demonstrate the vast potential of Capitainer®B to enhance testing and monitoring for PKU patients through improved analytical accuracy and precision, which can lead to better patient outcomes.

• #46 Comparative Effectiveness of Treatment for Phenylketonuria | Effective Health Care (EHC) Program

  https://effectivehealthcare.ahrq.gov/products/phenylketonuria/research-protocol

  Treatment for PKU is focused on maintaining a safe concentration of Phe in the blood, promoting normal growth and health throughout life, and preventing intellectual disability, although there is no consensus among clinics or across countries on the optimal Phe level. Patients with classic PKU require lifelong treatment, whereas patients with milder forms of PKU may not require as stringent of treatment. […] It is well known among clinicians that negative fetal consequences occur in unplanned pregnancies in women with PKU, but management of maternal PKU is not formally standardized. The guidelines from a National Institutes of Health Consensus Development Conference suggest that management, in addition to traditional approaches, should include home-testing of Phe levels for pregnant woman with PKU and outreach programs for pregnant woman with PKU and women with PKU who are of childbearing age to reinforce social support and positive attitudes about a controlled diet. Genetic counseling for pregnant women with PKU is imperative to prevent negative fetal outcomes.

• #47 Epidemiology and Natural History of Phenylketonuria and Other Hyperphenylalaninemias | SpringerLink

  https://link.springer.com/chapter/10.1007/978-1-4615-9821-3_26

  Millions of newborn infants all over the world are screened today for phenylketonuria (PKU), and many thousands of early-treated children and young persons are bright and completely normal. […] Research workers from many disciplines have cooperated to elucidate the biochemical and genetic background of PKU and other hyperphenylalaninemias and to prevent these inherited metabolic errors before clinical symptoms appear. […] This is a brief summary of the history of hyperphenylalaninemia covering a period of five decades from the time of Fllings first publication in 1934.

• #48 Comparative Effectiveness of Treatment for Phenylketonuria | Effective Health Care (EHC) Program

  https://effectivehealthcare.ahrq.gov/products/phenylketonuria/research-protocol

  A small body of literature reports on aspects of PKU treatment; initial searches in the PubMed database identified nearly 2,000 papers published since 1963. Most of these papers focus on aspects of the widely implemented low-Phe diet, but a smaller portion focuses on the use of sapropterin dihydrochloride to manage PKU. […] As of 2009, 13 clinical trials have yielded promising results for sapropterin dihydrochloride, but long-term safety and efficacy are still not clear, as revealed by Hegge and colleagues. While there is a growing body of evidence pertaining to the use of sapropterin dihydrochloride, there continues to be clinical uncertainty in the optimal management of the drug in children younger than 4 years of age or in pregnant women. […] PKU is a metabolic disorder that typically requires life-long management. Diagnosis is typically made by newborn screening, whereupon a treatment plan is implemented to prevent intellectual disability and other symptoms of the disease. Existing literature cites few RCTs that predict with certainty the long-term effects of pharmacological treatment or the desired Phe concentration ranges for various patient populations.

• #49 Phenylketonuria (PKU) Industry Forecast 2023-2032: A

  https://www.globenewswire.com/news-release/2023/07/25/2710143/0/en/Phenylketonuria-PKU-Industry-Forecast-2023-2032-A-Pipeline-Consisting-of-Promising-Drugs-Anticipated-to-Change-the-Treatment-Landscape.html

  This report provides an in-depth understanding of Phenylketonuria (PKU), its epidemiology, and market trends in the United States, EU4 (Germany, Spain, Italy, and France), the United Kingdom, and Japan. […] Newborn blood testing identifies almost all cases of phenylketonuria, and all 50 states in the United States require newborns to be screened for PKU. Many other countries also routinely screen infants for PKU. […] The report covers epidemiological data, current and emerging treatment approaches, drug pipeline analysis, market size, and trends, providing valuable insights for stakeholders in the PKU market. […] It discusses the existing therapies, the emerging pipeline candidates, and their potential impact on the PKU treatment landscape. Additionally, it explores the market access and reimbursement policies for PKU treatments, as well as patient perspectives and unmet needs.

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