Acta Medica Iranica 2018. 56(1):49-55.

Assessing the Phenylketonuria Screening Program in Newborns, Iran 2015-2016
Foruzan Ganji, Hooshang Naseri, Noushin Rostampour, Mozhde Sedighi, Masoud Lotfizadeh


Phenylketonuria is one of the most important congenital disorders and an autosomal recessive metabolic disease that can cause irreversible brain damages, mental retardation, and cognitive disorders if left untreated. In order to reduce the genetic abnormalities caused by this metabolic disease, screening programs are implemented. The quality of the program must be properly assessed to achieve the objectives of this program if promoting children's health is of concern. The descriptive-analytic method is adopted here to assess the phenylketonuria screening program in practice in Chaharmahal and Bakhtiari province since 2012 and analyze the incidence and program coverage. The quality of the screening program is assessed through analyzing the time of diagnosis, beginning of the treatment and the healthcare centers’ facilities with checklists. The parental and the staff awareness is assessed through knowledge measuring questionnaires. Cumulative incidence of phenylketonuria in Chaharmahal and Bakhtiari province from 2012 to 2015, is 1 in every 6662 live births. The program coverage across the region is 100%. The recorded on-time sampling index before 5 days of age, indicate 84.6 % in 2015 from 80% in 2012. The treatment begun before the newborn 4 weeks was over in all cases. Program sensitivity was 100 %, and its specificity was 99.9%. Staff awareness is fair with no impact on parental awareness. General quality of the screening program is appropriate, and as to sensitivity and on-time curing specificity, higher staff and parental awareness supervision are recommended as well.


Assessment; Screening; Phenylketonuria disease; Phenylalanine

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- Kaur A, Singh JR. Chromosomal abnormalities: Genetic disease burden in India. Int J Hum Genet.2010; 10(1-3):1–14

- Loeber JG. Neonatal screening in Europe; the situation in 2004. J Inherit Metab Dis. 2007; 30:430-8.

- Williams RA, Mamotte CDS, Burnett JR. Phenylketonuria: an inborn error of phenylalanine metabolism. Clin Biochem Rev. 2008; 29(1):31-41.

- Birk Møller L, Nygren AO, Scott P, Hougaard P, Bieber Nielsen J, Hartmann C, et al. Low proportion of whole exon deletions causing phenylketonuria in Denmark and Germany. Hum Mutat. 2007;28:207.

-Hatam N, Askarian M, Shirvani S, Pourmohammadi K. Cost Utility of Neonatal Screening Program for Phenylketonuria in Shiraz University of Medical Sciences. Hakim Res J. 2014; 16(4): 329- 36.

-Koochmeshgi J, Bagheri A, Hosseini Mazinani SM. Incidence of phenylketonuria in Iran estimated from consanguineous marriages. J Inherit Metab Dis. 2002; 25: 80–1.

- Vallian S, Barahimi E, Moeini H. Phenylketonuria in Iranian population: a study in inustitutins for mentally retarted in Isfehan. Mutat Res. 2003; 526: 45-52.

- Holmgren G, Larsson A, Palmstierna H, Alm J. The frequency of PKU and hyperphenylalaninemia in Sweden-a study in institutions for the mentally retarded as well as in neonates. Clin Genet. 1976; 10:313–318.

- DiLella AG, Woo SL. Molecular basis of phenylketonuria and its clinical applications. Mol Biol Med.1987;4:183–192

- Watson MS, Mann MY, Lloyd-Puryear M, Rinaldo P, Howell RR. American College of Medical Genetics Newborn Screening Expert Group. Newborn screening: toward a uniform screening panel and system—executive summary. Pediatrics. 2006; 117:5296–5307

- Burton BK, et al. A diversified approach for PKU treatment: routine screening yields high incidence of psychiatric distress in phenylketonuria clinics. Mol. Genet. Metab. 2013; 108:8–12.

- Gentile JK, Ten Hoedt AE, Bosch AM. Psychosocial aspects of PKU: hidden disabilities—a review.Mol. Genet. Metab. 2010; 99: 64–67.

- Camp KM, Lloyd-Puryear MA, Yao L, Groft SC, Parisi MA, Mulberg A, et all.Expanding research to provide an evidence base for nutritional interventions for the management of inborn errors of metabolism. Mol Genet Metab. 2013 Aug;109(4):319-28

- Lugner LK, Molleme L, Ruijs WLM, Hahne SJM. A cost utility analysis of antenatal screening to prevent congenital rubella syndrome. Epidemiol Infect. 2010; 138(172):1184.

- Dhondt JL, Farriaux JP, Sailly JC, Lebrun T. Economic evaluation of cost-benefit ratio of neonatal screening procedure for phenylketonuria and hypothyroidism. J Inherit Metab Dis. 1991; 14:633-9.

- Kasiri KA, Ganji F, Beigi R, Hashemi E. Evaluation of congenital hypothyroidism screening program in urban and rural health centers in Chaharamahal and Bakhtiari. J Shahrekord Univ Med Sci. 2014; 16(3): 89-94.

- Ramalho RJR, Valido DP, Aguiar-Oliveira MH. Avaliação do Programa de Triagem parao Hipotireoidismo Congênito no Estado de Sergipe. Arq Bras Endocrinol Metab. 2000;44:157-61.

- Ramalho RJ, Ramalho AR, Oliveira CR, Aguiar-Oliveira MH. Evolution of the screening program for congenital hypothyroidism and phenylketonuria in Sergipe State from 1995 to 2003. Arq Bras Endocrinol. 2004; 48(6): 890-6.

- Ramalho AR, Ramalho RJ, Oliveira CR, Santos EG, Oliveira MC, Aguiar-Oliveira MH. Neonatal screening program for congenital hypothyroidism in northeast of Brazil: criteria, diagnosis and results. Arq Bras Endocrinol. 2008 Jun;52(4):617-27.

- Souza CFM, Schwartz IV, Giugliani R. Neonatal screening of metabolic disorders. Ciênc Saúde Coletiva. 2002;7:129-37.

- Abadie V, Berthelot J, Feillet F, et al. Neonatal screening and long-term follow-up of phenylketonuria: the French database. Early Hum Dev. 2001; 65: 149–158.

- Williams RA, Mamotte CDS, Burnett JR. Phenylketonuria: an inborn error of phenylalanine metabolism. Clin Biochem Rev. 2008;29(1):31-41.

- Ramalho AR, Ramalho RJ, Oliveira CR, Magalhães MM, Santos EG, Sarmento PM, etal. Evaluation of effectiveness and outcome of PKU screening and management in the State of Sergipe, Brazil. Arq Bras Endocrinol. 2014; 58(1): 62-7.

- Loeber JG. Neonatal screening in Europe; the situation in 2004. J Inherit Metab Dis. 2007;30:430-8.

- Woolf LI. The high frequency of phenylketonuria in Ireland and western Scotland. J Inher Metab Dis. 1978; 1: 101-3.

- Liu Sr, Zuo Qh. Newborn screening for phenylketonuria in eleven districs. Chin med J (Engl). 1986; 99: 113-8.

- Kaye CI, Committee on Genetics, Accurso F, et al. Newborn screening fact sheets. Pediatrics. 2006; 118: 934-63.

- Genetic Depatement,Center of Noncommunicable Disease, Prevention and Control of Phenylketonuria Guideline. Iranian Ministry of Health, Treatment an Edgucation. 2011: 4-5.

- Karamifar H, Ordoei M, Karamizadeh Z, Amirhakimi GH. Incidence of neonatal hyperphenylalaninemia in Fars Province,Southern Iran. Iran J Pediatr. 2010;20(2):216-220.

- Farhud DD, Kabiri M. Incidence of phenylketonuria in Iran. Indian J Pediatr. 1982; 49: 685-8.

- Golbahar J, Karamizadeh Z, Honardar Z. Selective screening of amino acid disorders in the south-west of Iran, Shiraz. J Inherit Metab Dis. 2002; 25: 519-21.

- Vela-Amieva M1, Ibarra-González I, Fernández-Lainez C, Monroy-Santoyo S, Guillén-López S, Belmont-Martínez L, et al. Cause of delay in referral of patients with phenylketonuria to a specialized reference center in mexico. J Med Screen. 2011; 18(3):115-120.

- Brandalize SD, Czeresnia D. Evaluation of the program for prevention and health promotion in phenylketonuria patients in Brazil. Revista de Saúde Pública. 2004; 38(2): 300-6.

- Abadie V, Berthelot J, Feillet F, et al. Neonatal screening and long-term follow-up of phenylketonuria: the French database. Early Hum Dev. 2001; 65: 149–158.

- Holtzman C, Slazyk W.E, Cordero J.F, Hannon W.H .Descriptive epidemiology of missed cases of phenylketonuria and congenital hypothyroidism. Pediatrics. 1986; 78: 553–558.

- Hanley WB, Demshar H, Preston MA, Borczyk A, Schoonheyt WE, Clarke JT, Feigenbaum A. Newborn phenylketonuria (PKU) Guthrie (BIA) screening and early hospital discharge. Early Hum Dev. 1997;47(1):87-96.

- Verkerk PH. 20-year national screening for phenylketonuria in The Netherlands. National Guidance Commission PKU. Nederl Tijdschr Geneesk. 1995; 139(45): 2302-5.

- Smith I, Cook B, Beasley M. Review of neonatal screening programme for phenylketonuria. BMJ. 1991; 303(6798): 333-5.

- Senemar S, Ganjekarimi H, Fathzadeh M, Tarami B, Barzgar M. Epidemiological and clinical study of phenylketonouria (PKU) disease in the national screening program of neonates ,Fars Province, Southern Iran. Iranian J Publ Health. 2009 ;38(2):58-64.

- Habib A, Fallahzadeh MH, Kazeroni HR, Ganjkarimi AH. Incidence of Phenylketonuria in Southern Iran. Iran J Med Sci. 2010; 35:137-139.

- Eshraghi P, Abaskhanian A, Mohammadhasani A. Characteristics of patients with phenylketonouria in Mazandaran Province, Northern, Iran. Casp J Int Med. 2010; 1(2): 72-74.


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