Summary
Using Guthrie Biological Inhibition Assay, 4963 mentally retarded individuals housed in 31 cities and towns across the country were screened for PKU. The average prevalence of classical PKU in the study population was 2.1%, which is higher than that reported for most mentally retarded populations in other countries prior to the implementation of a nationwide newborn screening programme for PKU. The prevalence of PKU in 1814 mentally retarded inmates housed in shelters in Tehran was 2.81%, and the prevalence of the disease in 3149 inmates sheltered in other cities and towns was 1.68%. It appears that most of the difference between the prevalence of PKU in these two populations is due to a unique PKU referral pattern in Iran. The high prevalence of PKU in the mentally retarded population in Iran could be indicative of a high incidence of the disease among Iranian neonates. This in turn appears to be positively influenced by both a high frequency of the PKU allele and a high rate of consanguinity in the country. Our finding suggests that instead of limited local screening programmes in the country, a nationwide screening programme for PKU, especially if coupled with screening for congenital hypothyroidism, would be highly cost-effective and warranted.
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Abbreviations
- PAH:
-
phenylalanine hydroxylase
- PKU:
-
phenylketonuria
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Acknowledgements
All the Guthrie Kits for the GBIA for this study were donated by the Iran Social Welfare and Rehabilitation Organization. We are grateful to Mahmood Tabatabaei, president, and Ali Haeri, vice president for research, Beheshti University of Medical Sciences for organizational support. We also would like to thank the chairpersons and the personnel of the shelters across the country; without their cooperation this study could not have been possible. One of the authors, Gholamreza Saeb Taheri, represented the Iran Social Welfare and Rehabilitation Organization in this study, and successfully coordinated the activities of our laboratory team in Tehran with the activities of the laboratories and the personnel at the involved shelters. We sincerely thank Janet Vigna, Department of Biology at Grand Valley State University for her comments on the manuscript. We also would like to acknowledge the assistance of the Statistical Consulting Center at Grand Valley State University in performing statistical analysis and interpreting the results of this study.
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Communicating editor: Georg Hoffmann
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References to electronic databases: Phenylketonuria: OMIM 261600.
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Ghiasvand, N.M., Aledavood, A., Ghiasvand, R. et al. Prevalence of classical phenylketonuria in mentally retarded individuals in Iran. J Inherit Metab Dis 32 (Suppl 1), 283–287 (2009). https://doi.org/10.1007/s10545-009-1222-9
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DOI: https://doi.org/10.1007/s10545-009-1222-9