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1- Biochemistry and Biophysics department, Faculty of Medicine, Mazandaran University of Medical Sciences, Sari, Iran.
2- Novin Genetics diagnostic laboratory, Farah Abad 4, Farah Abad Boulevard, Sari, Mazandaran, Iran.
3- Immunogenetic Research center, Molecular and Cell biology Research center, Faculty of Medicine, Mazandaran University of Medical Sciences, Sari, Iran. , hashemisoteh@mazums.ac.ir
Abstract:   (128 Views)
Background and Objective: Phenylketonuria is the most frequent inborn error of metabolism, in which newborns cannot metabolize phenylalanine to tyrosine. Increased Phenylalanine in untreated Phenylketonuria patients, can cause serious intellectual disability, which its onerous financial burden falls on societies. This paper comprises a review, which aims to systematically indicate the frequency of Phenylketonuria worldwide and to highlight the global prevalence of Phenylketonuria, which might shed light on a better clinical management and screening programs. 
Methods: In this systematic review, two electronic databases including PubMed and ScienceDirect were searched for related kinds of literature using relevant keywords “Phenylketonuria” or “PKU” and “Prevalence” or “Incidence” and “Iran” or “Middle East” or “Europe” or “America” or “Asia” and 4306 reports conducted on Phenylketonuria during January 2007 up to December 2018 were retrieved. With the removal of 44 duplicated publications, conclusively 44 report were included in the current systematic review. Prevalence and Incidence are categorized based on different continents in which nations used various NBS programs to report the incidence and prevalence of Phenylketonuria. Non-English, non-eligible, duplicated, animal, and in vitro studies are excluded.
Findings: Based on the reported quantitative data, the prevalence of Phenylketonuria diagnosed in the glob ranged from 0.00044% to 0.02736% in which Italy possessed the highest prevalence, whereas Thailand manifested the lowest prevalence. However, for some countries such as India or Finland either the related data to the frequency of Phenylketonuria was outdated or they do not apply any newborn screening programs regards to Phenylketonuria.  
Conclusion: The current study revealed an elevated prevalence of Phenylketonuria in Iran in comparison with other Asian countries which might demand a more serious management program. Moreover, the high prevalence of Phenylketonuria in European countries should not be underestimated.
Full-Text [PDF 1144 kb]   (84 Downloads)    
Type of Study: Systematic Review | Subject: Pediatric Endocrinology
Received: 2020/07/25 | Accepted: 2020/10/11 | Published: 2020/10/28

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