Genetic etiology and clinical challenges of phenylketonuria

Hillert A, Anikster Y, Belanger-Quintana A, Burlina A, Burton BK, Carducci C, Chiesa AE, Christodoulou J, Dordevic M, Desviat LR, et al. The genetic landscape and epidemiology of phenylketonuria. Am J Hum Genet. 2020;107(2):234–50.

CAS  PubMed  PubMed Central  Article  Google Scholar 

Dhondt JL. Lessons from 30 years of selective screening for tetrahydrobiopterin deficiency. J Inherit Metab Dis. 2010;33(Suppl 2):S219–23.

PubMed  Article  CAS  Google Scholar 

Blau N. Sapropterin dihydrochloride for the treatment of hyperphenylalaninemias. Expert Opin Drug Metab Toxicol. 2013;9(9):1207–18.

CAS  PubMed  Article  Google Scholar 

Anikster Y, Haack TB, Vilboux T, Pode-Shakked B, Thony B, Shen N, Guarani V, Meissner T, Mayatepek E, Trefz FK, et al. Biallelic mutations in DNAJC12 cause hyperphenylalaninemia, dystonia, and intellectual disability. Am J Hum Genet. 2017;100(2):257–66.

CAS  PubMed  PubMed Central  Article  Google Scholar 

Straniero L, Guella I, Cilia R, Parkkinen L, Rimoldi V, Young A, Asselta R, Solda G, Sossi V, Stoessl AJ, et al. DNAJC12 and dopa-responsive nonprogressive parkinsonism. Ann Neurol. 2017;82(4):640–6.

CAS  PubMed  Article  Google Scholar 

Co G. Maternal phenylketonuria. Pediatrics. 2008;122(2):445–9.

Article  Google Scholar 

Blau N, van Spronsen FJ, Levy HL. Phenylketonuria. Lancet. 2010;376(9750):1417–27.

CAS  PubMed  Article  Google Scholar 

de Groot MJ, Hoeksma M, Blau N, Reijngoud DJ, van Spronsen FJ. Pathogenesis of cognitive dysfunction in phenylketonuria: review of hypotheses. Mol Genet Metab. 2010;99(Suppl 1):S86–9.

PubMed  Article  CAS  Google Scholar 

Mitchell JJ, Trakadis YJ, Scriver CR. Phenylalanine hydroxylase deficiency. Genet Med. 2011;13(8):697–707.

CAS  PubMed  Article  Google Scholar 

van Spronsen FJ, van Rijn M, Dorgelo B, Hoeksma M, Bosch AM, Mulder MF, de Klerk JB, de Koning T, Rubio-Gozalbo ME, de Vries M, et al. Phenylalanine tolerance can already reliably be assessed at the age of 2 years in patients with PKU. J Inherit Metab Dis. 2009;32(1):27–31.

PubMed  Article  CAS  Google Scholar 

van Spronsen FJ, Blau N, Harding C, Burlina A, Longo N, Bosch AM. Phenylketonuria. Nat Rev Dis Primers. 2021;7(1):36.

PubMed  PubMed Central  Article  Google Scholar 

van Spronsen FJ, van Wegberg AM, Ahring K, Belanger-Quintana A, Blau N, Bosch AM, Burlina A, Campistol J, Feillet F, Gizewska M, et al. Key European guidelines for the diagnosis and management of patients with phenylketonuria. Lancet Diabetes Endocrinol. 2017;5(9):743–56.

PubMed  Article  Google Scholar 

Sumaily KM, Mujamammi AH. Phenylketonuria: A new look at an old topic, advances in laboratory diagnosis, and therapeutic strategies. Int J Health Sci (Qassim). 2017;11(5):63–70.

Google Scholar 

Vardy ER, MacDonald A, Ford S, Hofman DL. Phenylketonuria, co-morbidity, and ageing: A review. J Inherit Metabol Dis. 2020;43(2):167–78.

Article  Google Scholar 

Garbade SF, Shen N, Himmelreich N, Haas D, Trefz FK, Hoffmann GF, Burgard P, Blau N. Allelic phenotype values: a model for genotype-based phenotype prediction in phenylketonuria. Genet Med. 2019;21(3):580–90.

CAS  PubMed  Article  Google Scholar 

Christ SE. Asbjorn Folling and the discovery of phenylketonuria. J Hist Neurosci. 2003;12(1):44–54.

PubMed  Article  Google Scholar 

Alonso-Fernandez JR, Woolf DLI. At the forefront of newborn screening and the diet to treat phenylketonuria-biography to mark his 100th birthday. Int J Neonatal Screen. 2020;6(3):61.

PubMed  PubMed Central  Article  Google Scholar 

Scriver CR. The PAH gene, phenylketonuria, and a paradigm shift. Hum Mutat. 2007;28(9):831–45.

CAS  PubMed  Article  Google Scholar 

Sutivijit Y, Banpavichit A, Wiwanitkit V. Prevalence of neonatal hypothyroidism and phenylketonuria in Southern Thailand: A 10-year report. Indian J Endocrinol Metab. 2011;15(2):115–7.

PubMed  PubMed Central  Article  Google Scholar 

Okano Y, Hase Y, Lee DH, Furuyama J, Shintaku H, Oura T, Isshiki G. Frequency and distribution of phenylketonuric mutations in Orientals. Hum Mutat. 1992;1(3):216–20.

CAS  PubMed  Article  Google Scholar 

Silao C. Mutations of the phenylalanine hydroxylase (PAH) gene in Filipino patients with phenylketonuria. Acta Med Philipp. 2009;43:36–9.

Google Scholar 

Lim JS, Tan ES, John CM, Poh S, Yeo SJ, Ang JS, Adakalaisamy P, Rozalli RA, Hart C, Tan ET, et al. Inborn error of metabolism (IEM) screening in Singapore by electrospray ionization-tandem mass spectrometry (ESI/MS/MS): An 8 year journey from pilot to current program. Mol Genet Metab. 2014;113(1–2):53–61.

CAS  PubMed  Article  Google Scholar 

Xiang L, Tao J, Deng K, Li X, Li Q, Yuan X, Liang J, Yu E, Wang M, Wang H, et al. Phenylketonuria incidence in China between 2013 and 2017 based on data from the Chinese newborn screening information system: a descriptive study. BMJ Open. 2019;9(8): e031474.

PubMed  PubMed Central  Article  Google Scholar 

ElSisi G, Elmahdawy M, Abaza S, Shalakani A. Cost-effectiveness of sapropterin versus phenylalanine free diet in patients with phenylketonuria in Egypt. Value in Health. 2013;16:A385.

Article  Google Scholar 

Setoodeh A, Yarali B, Rabbani A, Khatami S, Shams S. Tetrahydrobiopterin responsiveness in a series of 53 cases of phenylketonuria and hyperphenylalaninemia in Iran. Mol Genet Metab Rep. 2015;2:77–9.

CAS  PubMed  PubMed Central  Article  Google Scholar 

El-Metwally A, Yousef Al-Ahaidib L, Ayman Sunqurah A, Al-Surimi K, Househ M, Alshehri A, Da’ar OB, Abdul Razzak H, AlOdaib AN. The prevalence of phenylketonuria in Arab countries, Turkey, and Iran: A systematic review. Biomed Res Int. 2018;2018:7697210.

PubMed  PubMed Central  Article  Google Scholar 

Dobrowolski SF, Heintz C, Miller T, Ellingson C, Ellingson C, Ozer I, Gokcay G, Baykal T, Thony B, Demirkol M, et al. Molecular genetics and impact of residual in vitro phenylalanine hydroxylase activity on tetrahydrobiopterin responsiveness in Turkish PKU population. Mol Genet Metab. 2011;102(2):116–21.

CAS  PubMed  Article  Google Scholar 

Alfadhel M, Al Othaim A, Al Saif S, Al Mutairi F, Alsayed M, Rahbeeni Z, Alzaidan H, Alowain M, Al-Hassnan Z, Saeedi M, et al. Expanded newborn screening program in Saudi Arabia: Incidence of screened disorders. J Paediatr Child Health. 2017;53(6):585–91.

PubMed  Article  Google Scholar 

Alkhazrajy LA, Hassan AA. Evaluation of neonatal screening program applied at primary health care centers in Baghdad/Iraq. Eur J Biol Med Sci Res. 2015;3:29–47.

Google Scholar 

Al Hosani H, Salah M, Osman HM, Farag HM, El-Assiouty L, Saade D, Hertecant J. Expanding the comprehensive national neonatal screening programme in the United Arab Emirates from 1995 to 2011. East Mediterr Health J. 2014;20(1):17–23.

CAS  PubMed  Article  Google Scholar 

Golbahar J, Al-Jishi EA, Altayab DD, Carreon E, Bakhiet M, Alkhayyat H. Selective newborn screening of inborn errors of amino acids, organic acids and fatty acids metabolism in the Kingdom of Bahrain. Mol Genet Metab. 2013;110(1–2):98–101.

CAS  PubMed  Article  Google Scholar 

Kidd JR, Pakstis AJ, Zhao H, Lu RB, Okonofua FE, Odunsi A, Grigorenko E, Tamir BB, Friedlaender J, Schulz LO, et al. Haplotypes and linkage disequilibrium at the phenylalanine hydroxylase locus, PAH, in a global representation of populations. Am J Hum Genet. 2000;66(6):1882–99.

CAS  PubMed  PubMed Central  Article  Google Scholar 

Jiffri EH, Elhawary NA. The impact of common tumor necrosis factor haplotypes on the development of asthma in children: An Egyptian model. Genet Test Mol Biomarkers. 2011;15(5):293–9.

CAS  PubMed  Article  Google Scholar 

Arab AH, Elhawary NA. Association between ANKK1 (rs1800497) and LTA (rs909253) Genetic variants and risk of Schizophrenia. Biomed Res Int. 2015;2015: 821827.

PubMed  PubMed Central  Article  CAS  Google Scholar 

Elhawary NA, Nassir A, Saada H, Dannoun A, Qoqandi O, Alsharif A, Tayeb MT. Combined genetic biomarkers confer susceptibility to risk of urothelial bladder carcinoma in a Saudi population. Dis Markers. 2017;2017:1474560.

PubMed  PubMed Central  Article  CAS  Google Scholar 

Elhawary NA, Jiffri EH, Jambi S, Mufti AH, Dannoun A, Kordi H, Khogeer A, Jiffri OH, Elhawary AN, Tayeb MT. Molecular characterization of exonic rearrangements and frame shifts in the dystrophin gene in Duchenne muscular dystrophy patients in a Saudi community. Hum Genomics. 2018;12(1):18.

PubMed  PubMed Central  Article  CAS  Google Scholar 

Mufti AH, AlJahdali IA, Elhawary NA, Ekram SN, Abumansour I, Sindi IA, Naffadi H, Elhawary EN, Alyamani NM, Alghamdi G, et al. Variations in TAP1 and PSMB9 genes involved in antigen processing and presentation increase the risk of vitiligo in the Saudi community. Int J Gen Med. 2021;14:10031–44.

CAS  PubMed  PubMed Central  Article  Google Scholar 

Wang X, Wang Y, Ma D, Zhang Z, Li Y, Yang P, Sun Y, Jiang T. Neonatal screening and genotype-phenotype correlation of hyperphenylalaninemia in the Chinese population. Orphanet J Rare Dis. 2021;16(1):214.

PubMed  PubMed Central  Article  Google Scholar 

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