Evaluation of patients with phenylketonuria before and after screening in Qazvin Province, Iran

Ali Homaei, Banafsheh Arad, Kamelia Taherkhani, Fatemeh Saffari

DOI: 10.22122/cdj.v9i4.569


  • BACKGROUND: Phenylketonuria (PKU) is a hereditary metabolic disorder and is inherited as autosomal recessive, so it is more likely to occur in consanguineous marriages. Early diagnosis is made by screening and timely treatment can prevent brain damage.

    METHODS: This was a descriptive study including all children identified with PKU in Qazvin Province, Iran, up to march 2017. The required information was obtained through interviews with parents and reviewing of cases. Data were analyzed using SPSS software.

    RESULTS: Of the 63 infected patients, 55.5% were residents of Qazvin City and the rest were residents of other cities in the province. Parents of 54.0% of the patients were related. 20.6% of patients had at least one patient with PKU in their family. The mean age that patients were diagnosed before screening was 34 months, and the statistical difference between the two groups was significant (P < 0.001). 52.4% of the patients were girls. The most common reason of referring of the patients before screening was a developmental delay. The prevalence of hyperactivity, seizures, and delay in walking and language were significantly different between the two groups (P <0.001).

    CONCLUSION: Early diagnosis and treatment of children with inherited metabolic diseases can prevent brain damage and retardation in them and reduce the financial and psychological burden of treating these children by maintaining their intelligence quotient (IQ).


Diagnosis; Phenylketonuria; Developmental Disabilities

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Sharman RR. Neuropsychological development in children with early and continuously treated phenylketonuria: Association with biochemical markers [PhD thesis]. Brisbane, Australian: Queensland University of Technology; 2011.

Gunduz M, Arslan N, Unal O, Cakar S, Kuyum P, Bulbul SF. Depression and anxiety among parents of phenylketonuria children. Neurosciences (Riyadh) 2015; 20(4): 350-6.

Shoraka HR, Haghdoost AA, Baneshi MR, Bagherinezhad Z, Zolala F. Global prevalence of classic phenylketonuria based on Neonatal Screening Program Data: Systematic review and meta-analysis. Clin Exp Pediatr 2020; 63(2): 34-43.

Zafar Mohtashami A, Lashkarara Gr, Khodadadi F, Motamedi N. Epidemiologic study of Phenylketonuria disease in Lorestan province. Yafteh 2016; 18(3): 5-11. [In Persian].

Purevsuren J, Bolormaa B, Narantsetseg C, Batsolongo R, Enkhchimeg O, Bayalag M, et al. The first Mongolian cases of phenylketonuria in selective screening of inborn errors of metabolism. Mol Genet Metab Rep 2016; 9: 71-4.

Alavinejad E, Sajedi SZ, Razipour M, Entezam M, Mohajer N, Setoodeh A, et al. A Novel variant in the PAH gene causing phenylketonuria in an Iranian pedigree. Avicenna J Med Biotechnol 2017; 9(3): 146-9.

Binaafar S, Mahdieh N. Genetics of phenylketonuria in Iran: A review study. J Mazandaran Univ Med Sci 2017; 27(147): 446-55. [In Persian].

Ganji F, Naseri H, Rostampour N, Sedighi M, Lotfizadeh M. Assessing the phenylketonuria screening program in newborns, Iran 2015-2016. Acta Med Iran 2018; 56(1): 49-55.

Kliegman RM, Stanton BF, Geme JS, Schor NF. Nelson textbook of pediatrics. Philadelphia, PA: Elsevier Health Sciences; 2015. P. 636-40.

Bilder DA, Noel JK, Baker ER, Irish W, Chen Y, Merilainen MJ, et al. Systematic review and meta-analysis of neuropsychiatric symptoms and executive functioning in adults with phenylketonuria. Dev Neuropsychol 2016; 41(4): 245-60.

Fatholahpuor A, Alimoradi S, Yousefi F, Kashefi H. Comparison of IQ scores between children with phenylketonuria and healthy children referring to Besat Hospital in Sanandaj between 2017 and 2018. Sci J Kurdistan Univ Med Sci 2019; 24(5): 12-21. [In Persian].

Grosse SD. Late-treated phenylketonuria and partial reversibility of intellectual impairment. Child Dev 2010; 81(1): 200-11.

Eshraghi P, Abaskhanian A, Mohammadhasani A. Characteristics of patients with phenylketonuria in Mazandaran Province, northern, Iran. Caspian J Intern Med 2010; 1(2): 72-4.

Morovatdar N, Badiee Aval S, Hosseini Yazdi SMR, Norouzi F, Mina T. Epidemiology and clinical study of phenylketonuria (PKU) patients in Khorasan Province; Norteast Iran. Iran J neonatal 2015; 6(1): 18-22.

Senemar S, Ganjekarimi H, Fathzadeh M, Senemar S, Tarami B, Bazrgar M. epidemiological and clinical study of phenylketonuria (PKU) disease in the national screening program of neonates, Fars Province, southern Iran. Iran J Public Health 1; 38(2): 58-64.

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.

Pourfarzam M, Zadhoush F. Newborn screening for inherited metabolic disorders; news and views. J Res Med Sci 2013; 18(9): 801-8.

Center of Non Communicable disease. Treatment and Education, National Guideline of Prevention and control of PKU patients. Tehran, Iran: Ministry of Health and Medical Education; 2008. p. 4-6.

Mokhtari R, Bagga A. Consanguinity, genetic disorders and malformations in the Iranian population. Acta Biologica Szegediensis Acta Biol Szeged 2003; 47(1-4): 47-50.


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