Abstract

Background Phenylketonuria (PKU), which is characterized by a deficiency of phenylalanine hydroxylase activity, is an autosomal recessive disorder of phenylalanine (Phe) metabolism. Newborn screening is the main population-based public health screening program that allows successful identification and treatment of PKU with low-Phe diet. The aim of this study was to evaluate the epidemiology of PKU screening in Iranian newborns. Methods The present study was designed based on MOOSE protocol and reporting was done in accordance with the PRISMA guidelines. The protocol of this systematic review was published in PROSPERO before it was performed (CRD42020162626). A comprehensive search was done in 10/10/2019 to find related literature on international online databases Web of Science, Scopus, EMBASE, Science Direct, PubMed/Medline, EBSCO, CINAHL, Cochrane Library, national online databases and the Google Scholar search engine. Heterogeneity among studies was assessed by I(2)index and Q test. All meta-analyses were performed using Comprehensive Meta-Analysis Software ver. 2.P < 0.05 was considered significant. Result Finally, 18 studies with 3,339,327 Iranian neonates were included. The prevalence of suspected hyperphenylalaninemia(HPA) was estimated to be 45.6/100,000 (95 CI: 23.9-87.1). The prevalence of suspected HPA in girls and boys infants in Iran was estimated to be 38.0/100,000 (95 CI: 15.1-95.5) and 43.3/100,000 (95 CI: 16.2-116.2), respectively. The prevalence of PKU was estimated to be 16.5/100,000 (95 CI: 12.9-21.2). The prevalence of PKU in girls and boys infants was estimated to be 13.3/100,000 (95 CI: 7.5-15.8) and 10.9/100,000 (95 CI: 7.5-15.8), respectively. The prevalence of mild to moderate HPA was estimated 9.7/100,000 (95 CI: 5.1-18.4) and the prevalence of classical PKU was estimated 4.4/100,000 (95 CI: 2.5-7.8). Sensitivity analysis for all meta-analysis with the omission of one study showed that overall estimation is still robust. Conclusion The results of this meta-analysis showed that PKU is prevalent in Iranian neonates.It should be considered that for PKU there is a highly effective dietary treatment which can prevent the clinical symptoms of PKU if initiated early after detection by newborn screening.