Epidemiology and clinical study of phenylketonuria (PKU) patients in Khorasan Province; Norteast Iran

Document Type: Original Article

Authors

1 Health System Research Committee, Treatment Affaire of Vice Chancellor, Mashhad University of Medical Science , Mashhad , Iran

2 complementary medicine research center , Facaulty of traditional medicine, Mashhad university of Medical Sciences, Mashhad , Iran

3 Special Disease center, Treatment Affaire of Vice Chancellor , Mashhad University of Medical Science , Mashhad , Iran

4 Department of Information Technology, Treatment Affaire of Vice Chancellor , Mashhad University of Medical Science , Mashhad , Iran

5 Clinical Psychologist , Special Disease center, Treatment Affaire of Vice Chancellor, Mashhad University of Medical Science , Mashhad , Iran

Abstract

Epidemiology and clinical study of phenylketonuria (PKU) patients in Khorasan Province; Norteast Iran
Background: Phenylketonuria is an autosomal recessive disease. Early diagnosis is a important public health intervention to prevent neurological impairment .This study was designed to describe characteristics of phenylketonouria patients in Khorasan ,Northeast of Iran.
Methods: We included all  patients suffering from PKU in khorasan until September 2013. We gathered the variables like diagnosis age , sib of parents, cause of asking physician and screening based diagnosis or clinical based diagnosis. We use descriptive statistics for analysis.
Results: The mean age of diagnosis was 19 months .80% pku patients had a positive history of consanguineous marriage in their parents. Incidence of new cases that identified by screening in 2012-2013 was 57 per 1000000 live birth. 10% patients identified with screening in first week of birth.
Conclusion: Nearly all of our patients (90%) had been diagnosed without screening in the first days of their life only due to clinical manifestations in the first year of their life . According to efficacy of early diagnosis and dietary treatment, enforcement of public health policy for screening is a critical public health preventive intervention.

Keywords


  1. Scriver CR, Kaufman S. Hyperphenylalaninemia: Phenylalanine hydroxylase deficiency. In: Scriver CR, Beaudet AL, Valle D, editors. The metabolic and molecular basis of inherited disease. 8th ed. New York: McGraw-Hill Inc; 2001. P.1667–724
  2. Acosta PB, MichalsMatalon K. Nutrition management of patients with inherited disorders of aromatic amino acid metabolism. In: Acosta PB, editor. Nutrition management of patients with inherited metabolicdisorders. Sudbury, MA: Jones and Bartlett Publishers; 2010. P.119–52
  3. Anastasoaie V, Kurzius L, Forbes P, Waisbren S. Stability of blood phenylalanine levels and IQ in children with phenylketonuria. Mol Genet Metab. 2008; 95(1-2):17–20
  4. VanSpronsen FJ, Hoeksma M, Reijngoud DJ. Brain dysfunction in phenylketonuria: is phenylalanine the only possible cause? J Inherit Metab Dis. 2009; 32(1):46–51.
  5. Guthrie R, Susi A. A simple phenylalanine method for detecting phenylketonuria in large populations of newborn infants. Pediatrics. 1963;32:338–43.
  6. US Preventive Services Task Force. Screening for Phenylketonuria (PKU): US Preventive Services Task Force Reaffirmation Recommendation. Ann Fam Med. 2008; 6(2):166.
  7. Geelhoed EA, Lewis B, Hounsome D, O’Leary P. Economic evaluation of neonatal screening for phenylketonuria and congenital hypothyroidism. J Paediatr Child Health. 2005;41(11):575–79
  8. Pangkanon S, Charoensiriwatana W, Janejai N, Boonwanich W, Chaisomchit S. Detection of phenylketonuria by the newborn screening program in Thailand. Southeast Asia n J Trop Med Public Health. 2009; 40(3):525–29.
  9. Cornejo VRaimann ECabello JFValiente ABecerra COpazo M, et al. Past, present and future of newborn screening in Chile. J Inherit Metab Dis. 2010; 33(3):S301-6.

10. What is Phenylketonuria (PKU)?. Avalable from: nutrition.nutricia.com/conditions/phenylketonuria-PKU.

11. Erlandsen H, Patch MG, Gamez A, Straub M, Stevens RC. Structural studies on phenylalanine hydroxylase and implications toward understanding and treating phenylketonuria. Pediatrics. 2003; 112(6 Pt 1): 1557-65.

12. The hyperphenylalaninemia. In: Scriver CR, Beaudet AL, Sly WS, Valle D, Childs B, Kinzler KW, Vogelstein, editors. 8th ed. New York: McGraw-Hill; 2001.

13. Koochmeshgi J, Bagheri A, Hosseini-Mazinani SM. Incidence of phenylketonuria in Iran estimated from consanguineous marriages. J Inherit Metab Dis. 2002; 25(1): 80-81.

14. 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. Iranian J Publ Health. 2009; 38(2): 58-64.

15. Habib A, Fallahzadeh MH, Kazeroni HR, Ganjkarimi AH.  Incidence of Phenylketonuria in Southern Iran. Iran J Med Sci. 2010; 35(2): 137-9.

16. Karamifar H, Ordoei M, Karamizadeh Z, Amirhakimi GH. Incidence of Neonatal Hyperphenylalaninemia in Fars Province, South Iran. Iran J Pediatr. 2010; 20(2): 216- 20.

17. Vallian S, Barahimi E, Moeini H. Phenylketonuria in Iranian population: a study in institutions for mentally retarded in Isfahan. Mutat Res. 2003; 526(1-2): 45-52.

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

19. Kabiri M. A report on the incidence of phenylketonuria (PKU) in Tehran, Iran. Acta Medica Iran. 1982; 24:127-13.

20. Madden M. Phenylketonuria: Defects in amino acid metabolism. SCJMM. 2004; 5: 57-61.

21. Nyhan WL, Barshop BA, Ozand PT. Atlas of Metabolic Diseases. 2nd ed. Boca RatonFlorida:CRC Press; 2005.

22. Albrecht J, Garbade SF, Burgard P.  Neuropsychological speed tests and blood phenylalanine levels in patients with phenylketonuria: A meta-analysis. Neurosci Biobehav Rev. 2009; 33(3): 414–21.

23. Kim W, Erlandsen H, Surendran S, Stevens RC, Gamez A, Michols-Matalon K, et al. Trends in Enzyme Therapy for Phenylketonuria. Mol Ther. 2004; 10(2): 220-4. 

24. Hoeks MP, Den Jeijer M, Janssen MC. Adult issues in Phenylketonuria. Neth J Med. 2009; 67(1): 2-7.

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

26. Center of noncomunicable disease, Iran Ministry of  Health, Treatment and Education, National Guideline of Prevention and control of PKU patients; 2008. P.4-6.

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

28. Eshraghi P, Abaskhanian A, Mohammadhasani A. Characteristics of patients with phenylketonouria in Mazandaran Province, Northern, Iran. Caspian Journal of Internal Medicine. 2010; 1(2): 72-4

29. Vela M, Ibarra I, Fernandez C, Monray S. Cause of delay in referral of patients with phenylketonuria to a specialized reference center in mexico. J Med Screen. 2011; 18(3):115-20

30. . 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.