Incidence of phenylketonuria and the effect of prevention national program on reducing its incidence in the population covered by Kerman University of Medical Sciences during 2007-2020

Document Type : Original Article


1 Instructor, Department of Public Health, School of Health, Jiroft University of Medical Sciences, Jiroft, Iran.

2 General practitioner, Deputy of Health, Kerman University of Medical Sciences, Kerman, Iran.

3 PhD candidate in Psychology of Exceptional Children, Faculty of Psychology and Educational Sciences, Allameh Tabataba'i University, Tehran, Iran.

4 B.Sc. in Public Health, Kerman Health Center, Kerman University of Medical Sciences, Kerman, Iran.

5 PhD candidate, Student Research Committee, Kerman University of Medical Sciences, Kerman, Iran.


Introduction: Phenylketonuria (PKU) is the most common inherited metabolic disease in Iran that can be prevented by prenatal diagnostic tests (PND). This study was performed aimed to determine the incidence of PKU and the effect of implementing a prevention program on reducing its incidence in the population covered by Kerman University of Medical Sciences.
Methods: This was a descriptive study on health system research. All PKU carrier couples and patients covered by Kerman University of Medical Sciences in 2019 were studied. Data were obtained from the national form of epidemiological study of genetic diseases and genetic surveillance form from the Deputy Minister of Health. Frequency tables and graphs were used to describe the information.
Results: In this study, 68 patients and 63 carrier couples were covered and 37 (60.6%) carrier couples were at risk of having a sick child and all of them were under the care of health care centers. For 91.9% of them and 61.9% high-risk relatives, the type of gene mutation was determined. PND tests were performed on 28 (87.5%) pregnant women. Seven affected fetuses were diagnosed, all of which were aborted with parental consent. 32 high-risk couples (86.5%) used safe method of contraception. The 13-year incidence of PKU in the whole region was 1.13 and the expected incidence was 1.36 per 10,000 live births.
Conclusion: Implementation of prevention program had an effect on reducing the incidence of PKU. The high frequency of consanguineous marriages can affect the high incidence of PKU. It is necessary to identify the patient's relatives who are at risk of having a sick child (consanguineous marriage), refer them to a genetic counseling center and determining their status can be effective in reducing the incidence of the disease.


  1. Ministry of Health and Medical Education. National Instruction, Comprehensive program for integrating services for control and prevention of hereditary-genetic diseases in the Iranian health system. 4th St. Tehran: Ministry of Health and Medical Education; 2017. [Persian]
  2. Samavat A, Hajizadeh F. A report on the results of the Phenylketonuria Prevention and Control Program. 1th St. Tehran: Mehrtooba; 2016. [ Persian]
  3. Williams RA, Mamotte CD, Burnett JR. Phenylketonuria: an inborn error of phenylalanine metabolism. The Clinical Biochemist Reviews 2008; 29(1):31-41.
  4. Van Wegberg AM, MacDonald A, Ahring K, Bélanger-Quintana A, Blau N, Bosch AM, et al. The complete European guidelines on phenylketonuria: diagnosis and treatment. Orphanet journal of rare diseases 2017; 12(1):162.
  5. Shirzadeh T, Saeidian AH, Bagherian H, Salehpour S, Setoodeh A, Alaei MR, et al. Molecular genetics of a cohort of 635 cases of phenylketonuria in a consanguineous population. Journal of inherited metabolic disease 2018; 41(6):1159-67.
  6. 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. Scientific Journal of Kurdistan University of Medical Sciences 202 ; 21:12.
  7. MacLeod EL, Ney DM. Nutritional management of phenylketonuria. Annales Nestlé (English ed.) 2010; 68(2):58-69.
  8. Pangkanon S, Charoensiriwatana W, Janejai N, Boonwanich W, Chaisomchit S. Detection of phenylketonuria by the newborn screening program in Thailand. Southeast Asian journal of tropical medicine and public health 2009; 40(3):525-9.
  9. Zare-Karizi S, Hosseini-Mazinani SM, Khazaei-Koohpar Z, Seifati SM, Shahsavan-Behboodi B, Akbari MT, et al. Mutation spectrum of phenylketonuria in Iranian population. Molecular genetics and metabolism 2011; 102(1):29-32.
  10. Koochmeshgi J, Bagheri A, Hosseini-Mazinani SM. Incidence of phenylketonuria in Iran estimated from consanguineous marriages. Journal of inherited metabolic disease 2002; 25(1):80-1.
  11. Saadat M, Ansari-Lari M, Farhud DD. Short report consanguineous marriage in Iran. Annals of human biology 2004; 31(2):263-9.
  12. Rezabeigi Davarani E, Khanjani N, Iranpour A, Mohseni M. Educational needs of couples attending in pre-marriage counseling classes in health center of Kerman. Journal of Health Based Research 2016; 2(1):69-80.
  13. Saito T, Vogler GP, Rao DC. An expected decrease in the incidence of autosomal recessive disease due to decreasing consanguineous marriages. Genetic epidemiology 1988; 5(6):421-32.
  14. Heidari A, Arab M, Damari B. Estimation of economic cost in patients with phenylketunoria in Iran. J Manage Med Inform Sch 2018; 3(3):7-14.
  15. MacDonald A, Smith TA, de Silva S, Alam V, van Loon JM. The personal burden for caregivers of children with phenylketonuria: a cross-sectional study investigating time burden and costs in the UK. Molecular genetics and metabolism reports 2016; 28(9):1-5.
  16. Ford S, O'Driscoll M, MacDonald A. Living with Phenylketonuria: Lessons from the PKU community. Molecular genetics and metabolism reports 2018; 17:57-63.
  17. Badieian Mosavi N, Hejazi SA, Sadeghipour F, Fotovat A, Hoseini M. Examination of fetal indications in 548 cases of abortion therapy permissions issued by Forensic Medicine Center of Razavi Khorasan, Iran, in 2015. Iran J Obstet Gynecol Infertil 2018; 21(5):6-13.
  18. Liu N, Kong XD, Zhao DH, Wu QH, Li XL, Guo HF, et al. Prenatal diagnosis of Chinese families with phenylketonuria. Genet Mol Res 2015; 14(4):14615-28.
  19. Forouzesh M, Mirhadi J, Mohammadi S, Javadi Vasigh H, Tavasoli M. Investigation of the abundance causes of licensing abortion therapy by forensic medicine organization and its main determinants in Hormozgan Province during April 2016 until March 2017. Scientific Journal of Forensic Medicine 2017; 23(3):206-14.
  20. Javidi Sarafan M, Tafazoli M, Khadivzadeh T, Mazloum SR, Lotfalizadeh M. The effects of Standardized Patient-based teaching and Feedback lecture on midwifes’ clinical competence in counseling of fetal disorders screening. Iran J Obstet Gynecol Infertil 2020; 22(12):80-90.
  21. Košec V, Zec I, Tišlarić-Medenjak D, Kuna K, Šimundić AM, Lajtman-Križaić M, et al. Pregnant women’s knowledge and attitudes to prenatal screening for fetal chromosomal abnormalities: Croatian multicentric survey. Collegium antropologicum 2013; 37(2):483-9.
  22. Izhevskaya VL, Borzov EA, Ivanova LY, Zhuravleva IV, Ginter EK. Results of the survey of the PKU patients parents. 3. Attitude to the prenatal diagnosis of phenylketonuria. Medical Genetics 2015; 14(10):14-20.
  23. Hashemieh M, Naghadeh HT, Namini MT, Neamatzadeh H, Dehshal MH. The Iran thalassemia prevention program: success or failure?. Iranian journal of pediatric hematology and oncology 2015; 5(3):161.
  24. Motamedi N, Goodarzi E, Pordanjani SR, Valizadeh R, Moradi Y, Sohrabivafa M, Beiranvand R, Dehghani SL, Mamdohi S, Khazaei Z. Incidence of phenylketonuria in Lorestan province, West of Iran (2006-2016). International Journal of Pediatrics-Mashhad. 2017;5:4713-21.
  25. Khalajabadi Farahani F, Khazani S. Pronatalist policies and its role in pattern of contraceptive methods among women in reproductive age in Sanandaj City, 2016. Iran J Obstet Gynecol Infertil 2019; 22(6):20-38.
  26. Zafar Mohtashami A, Khodadadi F, Motamedi N. Epidemiologic study of Phenylketonuria disease in Lorestan province. Yafte 2016; 18(3):5-11.
  27. Morovatdar N, Aval SB, Yazdi SM, Norouzi F, Mina T. The epidemiological and clinical study of Phenylketonuria (PKU) patients in Khorasan, North-eastern Iran. Iran J Neonatol 2015; 6(1):19-22.
  28. Vela-Amieva M, Ibarra-González I, Fernández-Lainez C, Monroy-Santoyo S, Guillén-López S, Belmont-Martínez L, et al. Causes of delay in referral of patients with phenylketonuria to a specialized reference centre in Mexico. Journal of medical screening 2011; 18(3):115-20.
  29. Saadatpour Y, Dehghan F, Rasekhi S, Zolghadri N. Incidence of Neonatal Phenylketonuria in Hormozgan Province Southern Iran, 2014-2016. Journal of Global Pharma Technology 2016; 12(8):509-14.
  30. Emami H, Aarabi M, Zakizad Abkenar R. Economic evaluation of implementing national beta thalassemia prevention program in Mazandaran University of Medical Sciences. Journal of Mazandaran University of Medical Sciences 2019; 28(169):118-29.
  31. Rezabeigi Davarani E, Mohseni Takaloo F, Vahidnia A, Daneshi S, Rezabeigi Davarani M, Khanjani N, et al. Epidemiological Investigation of a Twenty-Year Major β-Thalassemia Surveillance in Kerman, Iran. Archives of Hygiene Sciences 2020; 9(4):265-74.
  32. Miri-Moghaddam E, Naderi M, Izadi S, Mashhadi MA. Causes of new cases of major thalassemia in sistan and balouchistan province in South-East of iran. Iranian journal of public health 2012; 41(11):67-71.
  33. Abbaskhanian A, Zamanfar D, Afshar P, Asadpoor E, Rouhanizadeh H, Jafarnia A, et al. Incidence of Neonatal Hyperphenylalaninemia based on high-performance liquid chromatography confirmatory technique in Mazandaran Province, Northern Iran (2007–2015). International journal of preventive medicine 2017; 8:93.
  34. Moradi K, Alibakhshi R. High risk of birth defects with PKU in Mast-e Ali village, Kermanshah province. Journal of Kermanshah University of Medical Sciences. 2014 Apr 30;18(1):62-5.
  35. García E, Timmermans DR, van Leeuwen E. The impact of ethical beliefs on decisions about prenatal screening tests: searching for justification. Social Science & Medicine 2008; 66(3):753-64.
  36. Raz AE, Amano Y, Timmermans S. Coming to terms with the imperfectly normal child: attitudes of Israeli parents of screen-positive infants regarding subsequent prenatal diagnosis. Journal of community genetics 2019; 10(1):41-50.
  37. Rabieyan M, Safdari R, Azimi C. Study of the genetic disorders of couples attending genetics clinic, Imam Khomeini hospital complex during 1995 To 2004. Journal of Payavard Salamat 2011; 5(3):59-69.
  38. Senemar SA, Ganjekarimi H, Fathzadeh M, Tarami B, Bazrgar M. Epidemiological and clinical study of Phenylketonuria (PKU) disease in the National Screening Program of Neonates, Fars province, Southern Iran. Iranian Journal of Public Health 2009; 38(2):58-64.