The Genetic Landscape and Epidemiology of Phenylketonuria
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]...
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| Published in | American journal of human genetics Vol. 107; no. 2; pp. 234 - 250 |
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| Main Authors | , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , |
| Format | Journal Article |
| Language | English |
| Published |
United States
Elsevier Inc
06.08.2020
Elsevier BV Elsevier |
| Subjects | |
| Online Access | Get full text |
| ISSN | 0002-9297 1537-6605 1537-6605 |
| DOI | 10.1016/j.ajhg.2020.06.006 |
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| Abstract | 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. A gradient in genotype and phenotype distribution exists across Europe, from classic PKU in the east to mild PKU in the southwest and mild hyperphenylalaninemia in the south. The c.1241A>G (p.Tyr414Cys)-associated genotype can be traced from Northern to Western Europe, from Sweden via Norway, to Denmark, to the Netherlands. The frequency of classic PKU increases from Europe (56%) via Middle East (71%) to Australia (80%). Of 758 PAH variants, c.1222C>T (p.Arg408Trp) (22.2%), c.1066−11G>A (IVS10−11G>A) (6.4%), and c.782G>A (p.Arg261Gln) (5.5%) were most common and responsible for two prevalent genotypes: p.[Arg408Trp];[Arg408Trp] (11.4%) and c.[1066−11G>A];[1066−11G>A] (2.6%). Most genotypes (73%) were compound heterozygous, 27% were homozygous, and 55% of 3,659 different genotypes occurred in only a single individual. PAH variants were scored using an allelic phenotype value and correlated with pre-treatment blood phenylalanine concentrations (n = 6,115) and tetrahydrobiopterin loading test results (n = 4,381), enabling prediction of both a genotype-based phenotype (88%) and tetrahydrobiopterin responsiveness (83%). This study shows that large genotype databases enable accurate phenotype prediction, allowing appropriate targeting of therapies to optimize clinical outcome. |
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| AbstractList | 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. A gradient in genotype and phenotype distribution exists across Europe, from classic PKU in the east to mild PKU in the southwest and mild hyperphenylalaninemia in the south. The c.1241A>G (p.Tyr414Cys)-associated genotype can be traced from Northern to Western Europe, from Sweden via Norway, to Denmark, to the Netherlands. The frequency of classic PKU increases from Europe (56%) via Middle East (71%) to Australia (80%). Of 758 PAH variants, c.1222C>T (p.Arg408Trp) (22.2%), c.1066-11G>A (IVS10-11G>A) (6.4%), and c.782G>A (p.Arg261Gln) (5.5%) were most common and responsible for two prevalent genotypes: p.[Arg408Trp];[Arg408Trp] (11.4%) and c.[1066-11G>A];[1066-11G>A] (2.6%). Most genotypes (73%) were compound heterozygous, 27% were homozygous, and 55% of 3,659 different genotypes occurred in only a single individual. PAH variants were scored using an allelic phenotype value and correlated with pre-treatment blood phenylalanine concentrations (n = 6,115) and tetrahydrobiopterin loading test results (n = 4,381), enabling prediction of both a genotype-based phenotype (88%) and tetrahydrobiopterin responsiveness (83%). This study shows that large genotype databases enable accurate phenotype prediction, allowing appropriate targeting of therapies to optimize clinical outcome.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. A gradient in genotype and phenotype distribution exists across Europe, from classic PKU in the east to mild PKU in the southwest and mild hyperphenylalaninemia in the south. The c.1241A>G (p.Tyr414Cys)-associated genotype can be traced from Northern to Western Europe, from Sweden via Norway, to Denmark, to the Netherlands. The frequency of classic PKU increases from Europe (56%) via Middle East (71%) to Australia (80%). Of 758 PAH variants, c.1222C>T (p.Arg408Trp) (22.2%), c.1066-11G>A (IVS10-11G>A) (6.4%), and c.782G>A (p.Arg261Gln) (5.5%) were most common and responsible for two prevalent genotypes: p.[Arg408Trp];[Arg408Trp] (11.4%) and c.[1066-11G>A];[1066-11G>A] (2.6%). Most genotypes (73%) were compound heterozygous, 27% were homozygous, and 55% of 3,659 different genotypes occurred in only a single individual. PAH variants were scored using an allelic phenotype value and correlated with pre-treatment blood phenylalanine concentrations (n = 6,115) and tetrahydrobiopterin loading test results (n = 4,381), enabling prediction of both a genotype-based phenotype (88%) and tetrahydrobiopterin responsiveness (83%). This study shows that large genotype databases enable accurate phenotype prediction, allowing appropriate targeting of therapies to optimize clinical outcome. 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. A gradient in genotype and phenotype distribution exists across Europe, from classic PKU in the east to mild PKU in the southwest and mild hyperphenylalaninemia in the south. The c.1241A>G (p.Tyr414Cys)-associated genotype can be traced from Northern to Western Europe, from Sweden via Norway, to Denmark, to the Netherlands. The frequency of classic PKU increases from Europe (56%) via Middle East (71%) to Australia (80%). Of 758 PAH variants, c.1222C>T (p.Arg408Trp) (22.2%), c.1066-11G>A (IVS10-11G>A) (6.4%), and c.782G>A (p.Arg261Gln) (5.5%) were most common and responsible for two prevalent genotypes: p.[Arg408Trp];[Arg408Trp] (11.4%) and c.[1066-11G>A];[1066-11G>A] (2.6%). Most genotypes (73%) were compound heterozygous, 27% were homozygous, and 55% of 3,659 different genotypes occurred in only a single individual. PAH variants were scored using an allelic phenotype value and correlated with pre-treatment blood phenylalanine concentrations (n = 6,115) and tetrahydrobiopterin loading test results (n = 4,381), enabling prediction of both a genotype-based phenotype (88%) and tetrahydrobiopterin responsiveness (83%). This study shows that large genotype databases enable accurate phenotype prediction, allowing appropriate targeting of therapies to optimize clinical outcome. 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. A gradient in genotype and phenotype distribution exists across Europe, from classic PKU in the east to mild PKU in the southwest and mild hyperphenylalaninemia in the south. The c.1241A>G (p.Tyr414Cys)-associated genotype can be traced from Northern to Western Europe, from Sweden via Norway, to Denmark, to the Netherlands. The frequency of classic PKU increases from Europe (56%) via Middle East (71%) to Australia (80%). Of 758 PAH variants, c.1222C>T (p.Arg408Trp) (22.2%), c.1066−11G>A (IVS10−11G>A) (6.4%), and c.782G>A (p.Arg261Gln) (5.5%) were most common and responsible for two prevalent genotypes: p.[Arg408Trp];[Arg408Trp] (11.4%) and c.[1066−11G>A];[1066−11G>A] (2.6%). Most genotypes (73%) were compound heterozygous, 27% were homozygous, and 55% of 3,659 different genotypes occurred in only a single individual. PAH variants were scored using an allelic phenotype value and correlated with pre-treatment blood phenylalanine concentrations (n = 6,115) and tetrahydrobiopterin loading test results (n = 4,381), enabling prediction of both a genotype-based phenotype (88%) and tetrahydrobiopterin responsiveness (83%). This study shows that large genotype databases enable accurate phenotype prediction, allowing appropriate targeting of therapies to optimize clinical outcome. 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. A gradient in genotype and phenotype distribution exists across Europe, from classic PKU in the east to mild PKU in the southwest and mild hyperphenylalaninemia in the south. The c.1241A>G (p.Tyr414Cys)-associated genotype can be traced from Northern to Western Europe, from Sweden via Norway, to Denmark, to the Netherlands. The frequency of classic PKU increases from Europe (56%) via Middle East (71%) to Australia (80%). Of 758 PAH variants, c.1222C>T (p.Arg408Trp) (22.2%), c.1066−11G>A (IVS10−11G>A) (6.4%), and c.782G>A (p.Arg261Gln) (5.5%) were most common and responsible for two prevalent genotypes: p.[Arg408Trp];[Arg408Trp] (11.4%) and c.[1066−11G>A];[1066−11G>A] (2.6%). Most genotypes (73%) were compound heterozygous, 27% were homozygous, and 55% of 3,659 different genotypes occurred in only a single individual. PAH variants were scored using an allelic phenotype value and correlated with pre-treatment blood phenylalanine concentrations (n = 6,115) and tetrahydrobiopterin loading test results (n = 4,381), enabling prediction of both a genotype-based phenotype (88%) and tetrahydrobiopterin responsiveness (83%). This study shows that large genotype databases enable accurate phenotype prediction, allowing appropriate targeting of therapies to optimize clinical outcome. |
| Author | Polak, Emil Desviat, Lourdes R. Stojiljković, Maja Porta, Francesco Gundorova, Polina Karall, Daniela Yu, Youngguo Paras, Andrea Christodoulou, John Giżewska, Maria Đorđević, Maja Stoppioni, Vera Kneller, Katya Spécola, Norma Santana-da Silva, Luiz C. Muntau, Ania C. van Spronsen, Francjan Shen, Nan Thöny, Beat Burlina, Alberto Fajkusova, Lena Lichter-Konecki, Uta Trefz, Friedrich K. Burton, Barbara K. Kutsev, Sergey I. Vockley, Jerry Zschocke, Johannes Evers, Roeland A.F. Feillet, François Namour, Fares Carducci, Carla Perez, Belen Hoffmann, Georg F. Anikster, Yair Rohrbach, Marianne Oltarzewski, Mariusz Chiesa, Ana E. Eliyahu, Aviva Belanger-Quintana, Amaya Skouma, Anastasia Levy, Harvey L. Hillert, Alicia Bonfim-Freitas, Pedro E. Scholl-Bürgi, Sabine Blau, Nenad Leuzzi, Vincenzo Polyakov, Alexander V. Garbade, Sven F. |
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Lurie Children’s Hospital of Chicago, Chicago, IL 60611, USA – sequence: 6 givenname: Carla surname: Carducci fullname: Carducci, Carla organization: Department of Experimental Medicine, Sapienza University of Rome, 00185 Rome, Italy – sequence: 7 givenname: Ana E. surname: Chiesa fullname: Chiesa, Ana E. organization: Fundación de Endocrinología Infantil (FEI), C1425 Buenos Aires, Argentina – sequence: 8 givenname: John surname: Christodoulou fullname: Christodoulou, John organization: Murdoch Children’s Research Institute and Department of Pediatrics, University of Melbourne, Melbourne, VIC 3052, Australia – sequence: 9 givenname: Maja surname: Đorđević fullname: Đorđević, Maja organization: Institute of Mother and Child Healthcare “Dr. Vukan Čupić,” 11000 Belgrade, Serbia – sequence: 10 givenname: Lourdes R. surname: Desviat fullname: Desviat, Lourdes R. organization: Centro de Diagnóstico de Enfermedades Moleculares, Centro de Biología Molecular CSIC-UAM, Universidad Autónoma de Madrid. 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| BackLink | https://cir.nii.ac.jp/crid/1874242817929148672$$DView record in CiNii https://www.ncbi.nlm.nih.gov/pubmed/32668217$$D View this record in MEDLINE/PubMed |
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| Cites_doi | 10.1016/j.ymgme.2016.01.004 10.1002/jimd.12173 10.1002/humu.10192 10.1136/bmjopen-2019-031474 10.1007/s004390050488 10.1016/S0168-9525(99)01761-8 10.1007/s10545-007-0660-5 10.1007/BF00225087 10.1016/S2213-8587(16)30320-5 10.1016/j.cca.2013.01.006 10.1016/j.ymgme.2014.02.013 10.3345/kjp.2019.00465 10.1038/srep15769 10.1038/gim.2013.157 10.1016/j.ymgme.2019.04.004 10.1002/(SICI)1098-1004(1997)9:1<88::AID-HUMU21>3.0.CO;2-K 10.1371/journal.pone.0211048 10.1038/jhg.2011.10 10.1007/BF00711693 10.1007/s10545-008-1016-5 10.1007/BF00197153 10.1007/s10545-012-9485-y 10.1136/jmedgenet-2014-102621 10.1002/humu.20526 10.1586/14737159.2014.923760 10.18388/abp.2013_2029 10.1002/humu.10205 10.1159/000472338 10.1016/j.ymgme.2018.06.011 10.1016/j.ymgme.2019.09.004 10.1371/journal.pone.0201489 10.1038/s41436-018-0081-x 10.1016/0888-7543(91)90225-4 10.1002/iub.1150 10.1007/8904_2017_61 10.1016/S0140-6736(10)60961-0 10.1111/cge.12444 10.1136/jmg.32.12.976 10.1155/2018/7697210 10.1517/14656566.2015.1013030 10.1016/0009-9120(91)80008-Q 10.1007/s004390050973 |
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| Keywords | tetrahydrobiopterin PKU phenylalanine hyperphenylalaninemia PAH deficiency BH4 |
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| References | Vockley, Andersson, Antshel, Braverman, Burton, Frazier, Mitchell, Smith, Thompson, Berry (bib7) 2014; 16 Blau, Shen, Carducci (bib14) 2014; 14 Sterl, Paul, Paschke, Zschocke, Brunner-Krainz, Windisch, Konstantopoulou, Möslinger, Karall, Scholl-Bürgi (bib35) 2013; 36 Desviat, Pérez, De Lucca, Cornejo, Schmidt, Ugarte (bib43) 1995; 57 Camp, Parisi, Acosta, Berry, Bilder, Blau, Bodamer, Brosco, Brown, Burlina (bib5) 2014; 112 Lillevali, Reinson, Muru, Simenson, Murumets, Mols, Ounap (bib31) 2018; 40 Shoraka, Haghdoost, Baneshi, Bagherinezhad, Zolala (bib26) 2020; 63 Scriver, Waters (bib17) 1999; 15 Gundorova, Stepanova, Kuznetsova, Kutsev, Polyakov (bib30) 2019; 14 Bik-Multanowski, Kaluzny, Mozrzymas, Oltarzewski, Starostecka, Lange, Didycz, Gizewska, Ulewicz-Filipowicz, Chrobot (bib32) 2013; 60 Garbade, Shen, Himmelreich, Haas, Trefz, Hoffmann, Burgard, Blau (bib15) 2019; 21 Blau, Longo (bib8) 2015; 16 Konecki, Schlotter, Trefz, Lichter-Konecki (bib21) 1991; 87 Eisensmith, Okano, Dasovich, Wang, Güttler, Lou, Guldberg, Lichter-Konecki, Konecki, Svensson (bib39) 1992; 51 Réblová, Hrubá, Procházková, Pazdírková, Pouchlá, Zeman, Fajkusová (bib34) 2013; 419 Zschocke, Hoffmann (bib36) 1999; 104 Güttler, Guldberg, Henriksen, Mikkelsen, Olsen, Lou (bib13) 1993; 16 Muntau, Adams, Bélanger-Quintana, Bushueva, Cerone, Chien, Chiesa, Coşkun, de Las Heras, Feillet (bib20) 2019; 127 van Spronsen, van Wegberg, Ahring, Bélanger-Quintana, Blau, Bosch, Burlina, Campistol, Feillet, Giżewska (bib6) 2017; 5 Okano, Kudo, Nishi, Sakaguchi, Aso (bib12) 2011; 56 Matalon, Michals (bib24) 1991; 24 Krawczak, Zschocke (bib38) 2003; 21 Hennermann, Vetter, Kulozik, Mönch (bib50) 2002; 25 Ellingsen, Knappskog, Eiken (bib22) 1997; 9 Blau, van Spronsen, Levy (bib1) 2010; 376 Himmelreich, Shen, Okun, Thiel, Hoffmann, Blau (bib3) 2018; 125 El-Metwally, Yousef Al-Ahaidib, Ayman Sunqurah, Al-Surimi, Househ, Alshehri, Da’ar, Abdul Razzak, AlOdaib (bib25) 2018; 2018 Li, Jia, Liu, Tao, Chen, Li, Deng, Jin, Song, Zhang (bib49) 2015; 5 Evers, van Wegberg, Anjema, Lubout, van Dam, van Vliet, Blau, van Spronsen (bib19) 2020; 43 Rajabi, Rohr, Wessel, Martell, Dobrowolski, Guldberg, Güttler, Levy (bib46) 2019; 128 Xiang, Tao, Deng, Li, Li, Yuan, Liang, Yu, Wang, Wang (bib48) 2019; 9 Vela-Amieva, Abreu-González, González-del Angel, Ibarra-González, Fernández-Lainez, Barrientos-Ríos, Monroy-Santoyo, Guillén-López, Alcántara-Ortigoza (bib44) 2015; 88 Shen, Heintz, Thiel, Okun, Hoffmann, Blau (bib18) 2016; 117 Zschocke (bib28) 2003; 21 Saadallah, Rashed (bib27) 2007; 30 Güttler (bib4) 1980; 280 Gundorova, Zinchenko, Kuznetsova, Bliznetz, Stepanova, Polyakov (bib10) 2018; 13 Flydal, Martinez (bib2) 2013; 65 Scriver (bib9) 2007; 28 Guldberg, Henriksen, Sipilä, Güttler, de la Chapelle (bib11) 1995; 32 Kádasi, Poláková, Feráková, Hudecová, Bohusová, Szomolayová, Strnová, Hruskovic, Moschonas, Ferák (bib33) 1995; 95 Hofman, Steel, Kazazian, Valle (bib47) 1991; 48 Zschocke (bib16) 2008; 31 Okano, Wang, Eisensmith, Longhi, Riva, Giovannini, Cerone, Romano, Woo (bib40) 1991; 9 Danecka, Woidy, Zschocke, Feillet, Muntau, Gersting (bib29) 2015; 52 Zschocke, Mallory, Eiken, Nevin (bib37) 1997; 100 Kleiman, Avigad, Vanagaite, Shmuelevitz, David, Eisensmith, Brand, Schwartz, Rey, Munnich (bib41) 1994; 2 Himmelreich (10.1016/j.ajhg.2020.06.006_bib3) 2018; 125 Güttler (10.1016/j.ajhg.2020.06.006_bib13) 1993; 16 Blau (10.1016/j.ajhg.2020.06.006_bib14) 2014; 14 Okano (10.1016/j.ajhg.2020.06.006_bib12) 2011; 56 Matalon (10.1016/j.ajhg.2020.06.006_bib24) 1991; 24 Zschocke (10.1016/j.ajhg.2020.06.006_bib37) 1997; 100 Scriver (10.1016/j.ajhg.2020.06.006_bib17) 1999; 15 Sterl (10.1016/j.ajhg.2020.06.006_bib35) 2013; 36 Garbade (10.1016/j.ajhg.2020.06.006_bib15) 2019; 21 Zschocke (10.1016/j.ajhg.2020.06.006_bib16) 2008; 31 Bik-Multanowski (10.1016/j.ajhg.2020.06.006_bib32) 2013; 60 Güttler (10.1016/j.ajhg.2020.06.006_bib4) 1980; 280 Blau (10.1016/j.ajhg.2020.06.006_bib8) 2015; 16 Blau (10.1016/j.ajhg.2020.06.006_bib1) 2010; 376 Gundorova (10.1016/j.ajhg.2020.06.006_bib30) 2019; 14 van Spronsen (10.1016/j.ajhg.2020.06.006_bib6) 2017; 5 Desviat (10.1016/j.ajhg.2020.06.006_bib43) 1995; 57 Vela-Amieva (10.1016/j.ajhg.2020.06.006_bib44) 2015; 88 Shoraka (10.1016/j.ajhg.2020.06.006_bib26) 2020; 63 Kádasi (10.1016/j.ajhg.2020.06.006_bib33) 1995; 95 Xiang (10.1016/j.ajhg.2020.06.006_bib48) 2019; 9 Camp (10.1016/j.ajhg.2020.06.006_bib5) 2014; 112 Saadallah (10.1016/j.ajhg.2020.06.006_bib27) 2007; 30 Zschocke (10.1016/j.ajhg.2020.06.006_bib36) 1999; 104 Flydal (10.1016/j.ajhg.2020.06.006_bib2) 2013; 65 Evers (10.1016/j.ajhg.2020.06.006_bib19) 2020; 43 Ellingsen (10.1016/j.ajhg.2020.06.006_bib22) 1997; 9 El-Metwally (10.1016/j.ajhg.2020.06.006_bib25) 2018; 2018 Krawczak (10.1016/j.ajhg.2020.06.006_bib38) 2003; 21 Guldberg (10.1016/j.ajhg.2020.06.006_bib11) 1995; 32 Li (10.1016/j.ajhg.2020.06.006_bib49) 2015; 5 Eisensmith (10.1016/j.ajhg.2020.06.006_bib39) 1992; 51 Muntau (10.1016/j.ajhg.2020.06.006_bib20) 2019; 127 Rajabi (10.1016/j.ajhg.2020.06.006_bib46) 2019; 128 Shen (10.1016/j.ajhg.2020.06.006_bib18) 2016; 117 Konecki (10.1016/j.ajhg.2020.06.006_bib21) 1991; 87 Scriver (10.1016/j.ajhg.2020.06.006_bib9) 2007; 28 Réblová (10.1016/j.ajhg.2020.06.006_bib34) 2013; 419 Danecka (10.1016/j.ajhg.2020.06.006_bib29) 2015; 52 Kleiman (10.1016/j.ajhg.2020.06.006_bib41) 1994; 2 Zschocke (10.1016/j.ajhg.2020.06.006_bib28) 2003; 21 Hofman (10.1016/j.ajhg.2020.06.006_bib47) 1991; 48 Vockley (10.1016/j.ajhg.2020.06.006_bib7) 2014; 16 Lillevali (10.1016/j.ajhg.2020.06.006_bib31) 2018; 40 Okano (10.1016/j.ajhg.2020.06.006_bib40) 1991; 9 Gundorova (10.1016/j.ajhg.2020.06.006_bib10) 2018; 13 Hennermann (10.1016/j.ajhg.2020.06.006_bib50) 2002; 25 |
| References_xml | – volume: 32 start-page: 976 year: 1995 end-page: 978 ident: bib11 article-title: Phenylketonuria in a low incidence population: molecular characterisation of mutations in Finland publication-title: J. Med. Genet. – volume: 9 start-page: e031474 year: 2019 ident: bib48 article-title: Phenylketonuria incidence in China between 2013 and 2017 based on data from the Chinese newborn screening information system: a descriptive study publication-title: BMJ Open – volume: 24 start-page: 337 year: 1991 end-page: 342 ident: bib24 article-title: Phenylketonuria: screening, treatment and maternal PKU publication-title: Clin. Biochem. – volume: 5 start-page: 15769 year: 2015 ident: bib49 article-title: Molecular characterisation of phenylketonuria in a Chinese mainland population using next-generation sequencing publication-title: Sci. Rep. – volume: 419 start-page: 1 year: 2013 end-page: 10 ident: bib34 article-title: Hyperphenylalaninemia in the Czech Republic: genotype-phenotype correlations and in silico analysis of novel missense mutations publication-title: Clin. Chim. Acta – volume: 125 start-page: 86 year: 2018 end-page: 95 ident: bib3 article-title: Relationship between genotype, phenylalanine hydroxylase expression and in vitro activity and metabolic phenotype in phenylketonuria publication-title: Mol. Genet. Metab. – volume: 30 start-page: 482 year: 2007 end-page: 489 ident: bib27 article-title: Newborn screening: experiences in the Middle East and North Africa publication-title: J. Inherit. Metab. Dis. – volume: 2018 start-page: 7697210 year: 2018 ident: bib25 article-title: The prevalence of phenylketonuria in Arab countries, Turkey, and Iran: A systematic review publication-title: BioMed Res. Int. – volume: 40 start-page: 39 year: 2018 end-page: 45 ident: bib31 article-title: Hyperphenylalaninaemias in Estonia: Genotype-Phenotype Correlation and Comparative Overview of the Patient Cohort Before and After Nation-Wide Neonatal Screening publication-title: JIMD Rep. – volume: 376 start-page: 1417 year: 2010 end-page: 1427 ident: bib1 article-title: Phenylketonuria publication-title: Lancet – volume: 52 start-page: 175 year: 2015 end-page: 185 ident: bib29 article-title: Mapping the functional landscape of frequent phenylalanine hydroxylase (PAH) genotypes promotes personalised medicine in phenylketonuria publication-title: J. Med. Genet. – volume: 51 start-page: 1355 year: 1992 end-page: 1365 ident: bib39 article-title: Multiple origins for phenylketonuria in Europe publication-title: Am. J. Hum. Genet. – volume: 21 start-page: 580 year: 2019 end-page: 590 ident: bib15 article-title: Allelic phenotype values: a model for genotype-based phenotype prediction in phenylketonuria publication-title: Genet. Med. – volume: 57 start-page: 337 year: 1995 end-page: 342 ident: bib43 article-title: Evidence in Latin America of recurrence of V388M, a phenylketonuria mutation with high in vitro residual activity publication-title: Am. J. Hum. Genet. – volume: 127 start-page: 1 year: 2019 end-page: 11 ident: bib20 article-title: International best practice for the evaluation of responsiveness to sapropterin dihydrochloride in patients with phenylketonuria publication-title: Mol. Genet. Metab. – volume: 21 start-page: 345 year: 2003 end-page: 356 ident: bib28 article-title: Phenylketonuria mutations in Europe publication-title: Hum. Mutat. – volume: 14 start-page: e0211048 year: 2019 ident: bib30 article-title: Genotypes of 2579 patients with phenylketonuria reveal a high rate of BH4 non-responders in Russia publication-title: PLoS ONE – volume: 31 start-page: 599 year: 2008 end-page: 618 ident: bib16 article-title: Dominant versus recessive: molecular mechanisms in metabolic disease publication-title: J. Inherit. Metab. Dis. – volume: 5 start-page: 743 year: 2017 end-page: 756 ident: bib6 article-title: Key European guidelines for the diagnosis and management of patients with phenylketonuria publication-title: Lancet Diabetes Endocrinol. – volume: 48 start-page: 791 year: 1991 end-page: 798 ident: bib47 article-title: Phenylketonuria in U.S. blacks: molecular analysis of the phenylalanine hydroxylase gene publication-title: Am. J. Hum. Genet. – volume: 2 start-page: 24 year: 1994 end-page: 34 ident: bib41 article-title: Origins of hyperphenylalaninemia in Israel publication-title: Eur. J. Hum. Genet. – volume: 60 start-page: 613 year: 2013 end-page: 616 ident: bib32 article-title: Molecular genetics of PKU in Poland and potential impact of mutations on BH4 responsiveness publication-title: Acta Biochim. Pol. – volume: 280 start-page: 1 year: 1980 end-page: 80 ident: bib4 article-title: Hyperphenylalaninemia: diagnosis and classification of the various types of phenylalanine hydroxylase deficiency in childhood publication-title: Acta Paediatr. Scand. Suppl. – volume: 56 start-page: 306 year: 2011 end-page: 312 ident: bib12 article-title: Molecular characterization of phenylketonuria and tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency in Japan publication-title: J. Hum. Genet. – volume: 63 start-page: 34 year: 2020 end-page: 43 ident: bib26 article-title: Global prevalence of classic phenylketonuria based on Neonatal Screening Program Data: systematic review and meta-analysis publication-title: Clin Exp Pediatr – volume: 21 start-page: 394 year: 2003 end-page: 397 ident: bib38 article-title: A role for overdominant selection in phenylketonuria? Evidence from molecular data publication-title: Hum. Mutat. – volume: 9 start-page: 88 year: 1997 end-page: 90 ident: bib22 article-title: Phenylketonuria splice mutation (EXON6nt-96A-->g) masquerading as missense mutation (Y204C) publication-title: Hum. Mutat. – volume: 65 start-page: 341 year: 2013 end-page: 349 ident: bib2 article-title: Phenylalanine hydroxylase: function, structure, and regulation publication-title: IUBMB Life – volume: 13 start-page: e0201489 year: 2018 ident: bib10 article-title: Molecular-genetic causes for the high frequency of phenylketonuria in the population from the North Caucasus publication-title: PLoS ONE – volume: 88 start-page: 62 year: 2015 end-page: 67 ident: bib44 article-title: Phenylalanine hydroxylase deficiency in Mexico: genotype-phenotype correlations, BH4 responsiveness and evidence of a founder effect publication-title: Clin. Genet. – volume: 112 start-page: 87 year: 2014 end-page: 122 ident: bib5 article-title: Phenylketonuria Scientific Review Conference: state of the science and future research needs publication-title: Mol. Genet. Metab. – volume: 117 start-page: 328 year: 2016 end-page: 335 ident: bib18 article-title: Co-expression of phenylalanine hydroxylase variants and effects of interallelic complementation on in vitro enzyme activity and genotype-phenotype correlation publication-title: Mol. Genet. Metab. – volume: 128 start-page: 415 year: 2019 end-page: 421 ident: bib46 article-title: Phenylalanine hydroxylase genotype-phenotype associations in the United States: A single center study publication-title: Mol. Genet. Metab. – volume: 16 start-page: 188 year: 2014 end-page: 200 ident: bib7 article-title: Phenylalanine hydroxylase deficiency: diagnosis and management guideline publication-title: Genet. Med. – volume: 16 start-page: 602 year: 1993 end-page: 604 ident: bib13 article-title: Molecular basis for the phenotypical diversity of phenylketonuria and related hyperphenylalaninaemias publication-title: J. Inherit. Metab. Dis. – volume: 9 start-page: 96 year: 1991 end-page: 103 ident: bib40 article-title: Phenylketonuria missense mutations in the Mediterranean publication-title: Genomics – volume: 16 start-page: 791 year: 2015 end-page: 800 ident: bib8 article-title: Alternative therapies to address the unmet medical needs of patients with phenylketonuria publication-title: Expert Opin. Pharmacother. – volume: 28 start-page: 831 year: 2007 end-page: 845 ident: bib9 article-title: The PAH gene, phenylketonuria, and a paradigm shift publication-title: Hum. Mutat. – volume: 25 start-page: 21 year: 2002 ident: bib50 article-title: Partial und total tetrahydrobiopterin-responsiveness in classical and mild phenylketonuria (PKU) publication-title: J. Inherit. Metab. Dis. – volume: 95 start-page: 112 year: 1995 end-page: 114 ident: bib33 article-title: PKU in Slovakia: mutation screening and haplotype analysis publication-title: Hum. Genet. – volume: 43 start-page: 244 year: 2020 end-page: 250 ident: bib19 article-title: The first European guidelines on phenylketonuria: Usefulness and implications for BH publication-title: J. Inherit. Metab. Dis. – volume: 104 start-page: 390 year: 1999 end-page: 398 ident: bib36 article-title: Phenylketonuria mutations in Germany publication-title: Hum. Genet. – volume: 15 start-page: 267 year: 1999 end-page: 272 ident: bib17 article-title: Monogenic traits are not simple: lessons from phenylketonuria publication-title: Trends Genet. – volume: 36 start-page: 7 year: 2013 end-page: 13 ident: bib35 article-title: Prevalence of tetrahydrobiopterine (BH4)-responsive alleles among Austrian patients with PAH deficiency: comprehensive results from molecular analysis in 147 patients publication-title: J. Inherit. Metab. Dis. – volume: 14 start-page: 655 year: 2014 end-page: 671 ident: bib14 article-title: Molecular genetics and diagnosis of phenylketonuria: state of the art publication-title: Expert Rev. Mol. Diagn. – volume: 100 start-page: 189 year: 1997 end-page: 194 ident: bib37 article-title: Phenylketonuria and the peoples of Northern Ireland publication-title: Hum. Genet. – volume: 87 start-page: 389 year: 1991 end-page: 393 ident: bib21 article-title: The identification of two mis-sense mutations at the PAH gene locus in a Turkish patient with phenylketonuria publication-title: Hum. Genet. – volume: 117 start-page: 328 year: 2016 ident: 10.1016/j.ajhg.2020.06.006_bib18 article-title: Co-expression of phenylalanine hydroxylase variants and effects of interallelic complementation on in vitro enzyme activity and genotype-phenotype correlation publication-title: Mol. Genet. Metab. doi: 10.1016/j.ymgme.2016.01.004 – volume: 43 start-page: 244 year: 2020 ident: 10.1016/j.ajhg.2020.06.006_bib19 article-title: The first European guidelines on phenylketonuria: Usefulness and implications for BH4 responsiveness testing publication-title: J. Inherit. Metab. Dis. doi: 10.1002/jimd.12173 – volume: 21 start-page: 345 year: 2003 ident: 10.1016/j.ajhg.2020.06.006_bib28 article-title: Phenylketonuria mutations in Europe publication-title: Hum. Mutat. doi: 10.1002/humu.10192 – volume: 9 start-page: e031474 year: 2019 ident: 10.1016/j.ajhg.2020.06.006_bib48 article-title: Phenylketonuria incidence in China between 2013 and 2017 based on data from the Chinese newborn screening information system: a descriptive study publication-title: BMJ Open doi: 10.1136/bmjopen-2019-031474 – volume: 100 start-page: 189 year: 1997 ident: 10.1016/j.ajhg.2020.06.006_bib37 article-title: Phenylketonuria and the peoples of Northern Ireland publication-title: Hum. Genet. doi: 10.1007/s004390050488 – volume: 15 start-page: 267 year: 1999 ident: 10.1016/j.ajhg.2020.06.006_bib17 article-title: Monogenic traits are not simple: lessons from phenylketonuria publication-title: Trends Genet. doi: 10.1016/S0168-9525(99)01761-8 – volume: 30 start-page: 482 year: 2007 ident: 10.1016/j.ajhg.2020.06.006_bib27 article-title: Newborn screening: experiences in the Middle East and North Africa publication-title: J. Inherit. Metab. Dis. doi: 10.1007/s10545-007-0660-5 – volume: 95 start-page: 112 year: 1995 ident: 10.1016/j.ajhg.2020.06.006_bib33 article-title: PKU in Slovakia: mutation screening and haplotype analysis publication-title: Hum. Genet. doi: 10.1007/BF00225087 – volume: 5 start-page: 743 year: 2017 ident: 10.1016/j.ajhg.2020.06.006_bib6 article-title: Key European guidelines for the diagnosis and management of patients with phenylketonuria publication-title: Lancet Diabetes Endocrinol. doi: 10.1016/S2213-8587(16)30320-5 – volume: 419 start-page: 1 year: 2013 ident: 10.1016/j.ajhg.2020.06.006_bib34 article-title: Hyperphenylalaninemia in the Czech Republic: genotype-phenotype correlations and in silico analysis of novel missense mutations publication-title: Clin. Chim. Acta doi: 10.1016/j.cca.2013.01.006 – volume: 112 start-page: 87 year: 2014 ident: 10.1016/j.ajhg.2020.06.006_bib5 article-title: Phenylketonuria Scientific Review Conference: state of the science and future research needs publication-title: Mol. Genet. Metab. doi: 10.1016/j.ymgme.2014.02.013 – volume: 63 start-page: 34 year: 2020 ident: 10.1016/j.ajhg.2020.06.006_bib26 article-title: Global prevalence of classic phenylketonuria based on Neonatal Screening Program Data: systematic review and meta-analysis publication-title: Clin Exp Pediatr doi: 10.3345/kjp.2019.00465 – volume: 5 start-page: 15769 year: 2015 ident: 10.1016/j.ajhg.2020.06.006_bib49 article-title: Molecular characterisation of phenylketonuria in a Chinese mainland population using next-generation sequencing publication-title: Sci. Rep. doi: 10.1038/srep15769 – volume: 16 start-page: 188 year: 2014 ident: 10.1016/j.ajhg.2020.06.006_bib7 article-title: Phenylalanine hydroxylase deficiency: diagnosis and management guideline publication-title: Genet. Med. doi: 10.1038/gim.2013.157 – volume: 127 start-page: 1 year: 2019 ident: 10.1016/j.ajhg.2020.06.006_bib20 article-title: International best practice for the evaluation of responsiveness to sapropterin dihydrochloride in patients with phenylketonuria publication-title: Mol. Genet. Metab. doi: 10.1016/j.ymgme.2019.04.004 – volume: 9 start-page: 88 year: 1997 ident: 10.1016/j.ajhg.2020.06.006_bib22 article-title: Phenylketonuria splice mutation (EXON6nt-96A-->g) masquerading as missense mutation (Y204C) publication-title: Hum. Mutat. doi: 10.1002/(SICI)1098-1004(1997)9:1<88::AID-HUMU21>3.0.CO;2-K – volume: 48 start-page: 791 year: 1991 ident: 10.1016/j.ajhg.2020.06.006_bib47 article-title: Phenylketonuria in U.S. blacks: molecular analysis of the phenylalanine hydroxylase gene publication-title: Am. J. Hum. Genet. – volume: 14 start-page: e0211048 year: 2019 ident: 10.1016/j.ajhg.2020.06.006_bib30 article-title: Genotypes of 2579 patients with phenylketonuria reveal a high rate of BH4 non-responders in Russia publication-title: PLoS ONE doi: 10.1371/journal.pone.0211048 – volume: 25 start-page: 21 year: 2002 ident: 10.1016/j.ajhg.2020.06.006_bib50 article-title: Partial und total tetrahydrobiopterin-responsiveness in classical and mild phenylketonuria (PKU) publication-title: J. Inherit. Metab. Dis. – volume: 56 start-page: 306 year: 2011 ident: 10.1016/j.ajhg.2020.06.006_bib12 article-title: Molecular characterization of phenylketonuria and tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency in Japan publication-title: J. Hum. Genet. doi: 10.1038/jhg.2011.10 – volume: 16 start-page: 602 year: 1993 ident: 10.1016/j.ajhg.2020.06.006_bib13 article-title: Molecular basis for the phenotypical diversity of phenylketonuria and related hyperphenylalaninaemias publication-title: J. Inherit. Metab. Dis. doi: 10.1007/BF00711693 – volume: 31 start-page: 599 year: 2008 ident: 10.1016/j.ajhg.2020.06.006_bib16 article-title: Dominant versus recessive: molecular mechanisms in metabolic disease publication-title: J. Inherit. Metab. Dis. doi: 10.1007/s10545-008-1016-5 – volume: 87 start-page: 389 year: 1991 ident: 10.1016/j.ajhg.2020.06.006_bib21 article-title: The identification of two mis-sense mutations at the PAH gene locus in a Turkish patient with phenylketonuria publication-title: Hum. Genet. doi: 10.1007/BF00197153 – volume: 36 start-page: 7 year: 2013 ident: 10.1016/j.ajhg.2020.06.006_bib35 article-title: Prevalence of tetrahydrobiopterine (BH4)-responsive alleles among Austrian patients with PAH deficiency: comprehensive results from molecular analysis in 147 patients publication-title: J. Inherit. Metab. Dis. doi: 10.1007/s10545-012-9485-y – volume: 52 start-page: 175 year: 2015 ident: 10.1016/j.ajhg.2020.06.006_bib29 article-title: Mapping the functional landscape of frequent phenylalanine hydroxylase (PAH) genotypes promotes personalised medicine in phenylketonuria publication-title: J. Med. Genet. doi: 10.1136/jmedgenet-2014-102621 – volume: 28 start-page: 831 year: 2007 ident: 10.1016/j.ajhg.2020.06.006_bib9 article-title: The PAH gene, phenylketonuria, and a paradigm shift publication-title: Hum. Mutat. doi: 10.1002/humu.20526 – volume: 14 start-page: 655 year: 2014 ident: 10.1016/j.ajhg.2020.06.006_bib14 article-title: Molecular genetics and diagnosis of phenylketonuria: state of the art publication-title: Expert Rev. Mol. Diagn. doi: 10.1586/14737159.2014.923760 – volume: 60 start-page: 613 year: 2013 ident: 10.1016/j.ajhg.2020.06.006_bib32 article-title: Molecular genetics of PKU in Poland and potential impact of mutations on BH4 responsiveness publication-title: Acta Biochim. Pol. doi: 10.18388/abp.2013_2029 – volume: 21 start-page: 394 year: 2003 ident: 10.1016/j.ajhg.2020.06.006_bib38 article-title: A role for overdominant selection in phenylketonuria? Evidence from molecular data publication-title: Hum. Mutat. doi: 10.1002/humu.10205 – volume: 2 start-page: 24 year: 1994 ident: 10.1016/j.ajhg.2020.06.006_bib41 article-title: Origins of hyperphenylalaninemia in Israel publication-title: Eur. J. Hum. Genet. doi: 10.1159/000472338 – volume: 125 start-page: 86 year: 2018 ident: 10.1016/j.ajhg.2020.06.006_bib3 article-title: Relationship between genotype, phenylalanine hydroxylase expression and in vitro activity and metabolic phenotype in phenylketonuria publication-title: Mol. Genet. Metab. doi: 10.1016/j.ymgme.2018.06.011 – volume: 280 start-page: 1 year: 1980 ident: 10.1016/j.ajhg.2020.06.006_bib4 article-title: Hyperphenylalaninemia: diagnosis and classification of the various types of phenylalanine hydroxylase deficiency in childhood publication-title: Acta Paediatr. Scand. Suppl. – volume: 128 start-page: 415 year: 2019 ident: 10.1016/j.ajhg.2020.06.006_bib46 article-title: Phenylalanine hydroxylase genotype-phenotype associations in the United States: A single center study publication-title: Mol. Genet. Metab. doi: 10.1016/j.ymgme.2019.09.004 – volume: 13 start-page: e0201489 year: 2018 ident: 10.1016/j.ajhg.2020.06.006_bib10 article-title: Molecular-genetic causes for the high frequency of phenylketonuria in the population from the North Caucasus publication-title: PLoS ONE doi: 10.1371/journal.pone.0201489 – volume: 21 start-page: 580 year: 2019 ident: 10.1016/j.ajhg.2020.06.006_bib15 article-title: Allelic phenotype values: a model for genotype-based phenotype prediction in phenylketonuria publication-title: Genet. Med. doi: 10.1038/s41436-018-0081-x – volume: 9 start-page: 96 year: 1991 ident: 10.1016/j.ajhg.2020.06.006_bib40 article-title: Phenylketonuria missense mutations in the Mediterranean publication-title: Genomics doi: 10.1016/0888-7543(91)90225-4 – volume: 57 start-page: 337 year: 1995 ident: 10.1016/j.ajhg.2020.06.006_bib43 article-title: Evidence in Latin America of recurrence of V388M, a phenylketonuria mutation with high in vitro residual activity publication-title: Am. J. Hum. Genet. – volume: 65 start-page: 341 year: 2013 ident: 10.1016/j.ajhg.2020.06.006_bib2 article-title: Phenylalanine hydroxylase: function, structure, and regulation publication-title: IUBMB Life doi: 10.1002/iub.1150 – volume: 51 start-page: 1355 year: 1992 ident: 10.1016/j.ajhg.2020.06.006_bib39 article-title: Multiple origins for phenylketonuria in Europe publication-title: Am. J. Hum. Genet. – volume: 40 start-page: 39 year: 2018 ident: 10.1016/j.ajhg.2020.06.006_bib31 article-title: Hyperphenylalaninaemias in Estonia: Genotype-Phenotype Correlation and Comparative Overview of the Patient Cohort Before and After Nation-Wide Neonatal Screening publication-title: JIMD Rep. doi: 10.1007/8904_2017_61 – volume: 376 start-page: 1417 year: 2010 ident: 10.1016/j.ajhg.2020.06.006_bib1 article-title: Phenylketonuria publication-title: Lancet doi: 10.1016/S0140-6736(10)60961-0 – volume: 88 start-page: 62 year: 2015 ident: 10.1016/j.ajhg.2020.06.006_bib44 article-title: Phenylalanine hydroxylase deficiency in Mexico: genotype-phenotype correlations, BH4 responsiveness and evidence of a founder effect publication-title: Clin. Genet. doi: 10.1111/cge.12444 – volume: 32 start-page: 976 year: 1995 ident: 10.1016/j.ajhg.2020.06.006_bib11 article-title: Phenylketonuria in a low incidence population: molecular characterisation of mutations in Finland publication-title: J. Med. Genet. doi: 10.1136/jmg.32.12.976 – volume: 2018 start-page: 7697210 year: 2018 ident: 10.1016/j.ajhg.2020.06.006_bib25 article-title: The prevalence of phenylketonuria in Arab countries, Turkey, and Iran: A systematic review publication-title: BioMed Res. Int. doi: 10.1155/2018/7697210 – volume: 16 start-page: 791 year: 2015 ident: 10.1016/j.ajhg.2020.06.006_bib8 article-title: Alternative therapies to address the unmet medical needs of patients with phenylketonuria publication-title: Expert Opin. Pharmacother. doi: 10.1517/14656566.2015.1013030 – volume: 24 start-page: 337 year: 1991 ident: 10.1016/j.ajhg.2020.06.006_bib24 article-title: Phenylketonuria: screening, treatment and maternal PKU publication-title: Clin. Biochem. doi: 10.1016/0009-9120(91)80008-Q – volume: 104 start-page: 390 year: 1999 ident: 10.1016/j.ajhg.2020.06.006_bib36 article-title: Phenylketonuria mutations in Germany publication-title: Hum. Genet. doi: 10.1007/s004390050973 |
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| Snippet | Phenylketonuria (PKU), caused by variants in the phenylalanine hydroxylase (PAH) gene, is the most common autosomal-recessive Mendelian phenotype of amino acid... |
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| SubjectTerms | Alleles BH4 BH4, PAH deficiency, PKU, hyperphenylalaninemia, phenylalanine, tetrahydrobiopterin Biopterins Biopterins - analogs & derivatives Biopterins - genetics DIAGNOSIS Europe Gene Frequency Gene Frequency - genetics Genetic Association Studies Genetic Association Studies - methods Genetic Predisposition to Disease Genetic Predisposition to Disease - genetics Genotype GENOTYPE-PHENOTYPE CORRELATIONS Homozygote https://purl.org/becyt/ford/3 https://purl.org/becyt/ford/3.3 Humans HYPERPHENYLALANINEMIA MOLECULAR CHARACTERIZATION Mutation Mutation - genetics MUTATIONS ORIGINS PAH DEFICIENCY PAH GENE PATIENT Phenotype Phenylalanine Phenylalanine - blood Phenylalanine Hydroxylase Phenylalanine Hydroxylase - genetics PHENYLALANINE-HYDROXYLASE DEFICIENCY Phenylketonurias Phenylketonurias - blood Phenylketonurias - epidemiology Phenylketonurias - genetics PKU STATE TETRAHYDROBIOPTERIN |
| Title | The Genetic Landscape and Epidemiology of Phenylketonuria |
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