International Journal of Preventive Medicine (Int J Prev Med)2008-7802112017121818531853ENDepartment of Pediatrics, School of Medicine & Clinical Research Development Unit of Bou Ali‑Sina Hospital, Mazandaran University of Medical Sciences, SariDepartment of Pediatrics, School of Medicine & Diabetes Research Center, Mazandaran University of Medical Sciences, SariResearch and Development Unit of Referral Laboratory, Deputy of Health Management, Mazandaran University of Medical Sciences, SariDeputy of Health, Mazandaran University of Medical Sciences, SariDepartment of Pediatrics, School of Medicine & Deputy of Health Management, Mazandaran University of Medical Sciences, SariDeputy of Health, Babol University of Medical Sciences, BabolDepartment of Pharmacology, Faculty of Pharmacy, Mazandaran University of Medical Sciences, Sari20171218<p><span class="fontstyle0"><strong>Background</strong>: </span><span class="fontstyle2">Classic phenylketonuria (PKU) is a metabolic disorder. The purpose of this study was to assess epidemiological factors of PKU phenotypes in a neonatal screening program for Mazandaran, Iran. </span><span class="fontstyle0"><strong></strong></span></p><p><span class="fontstyle0"><strong>Methods</strong>: </span><span class="fontstyle2">In this descriptive‑retrospective study from 2007 to 2015, neonates PKU level was conducted by phenylalanine level based on a biochemical technique by ELISA and then by confrmatory methods high performance liquid chromatography. </span><span class="fontstyle0"><strong></strong></span></p><p><span class="fontstyle0"><strong>Results</strong>: </span><span class="fontstyle2">Of the 407,244 screened newborns (48.7% girls and 51.3% boys), 14 girls and 13 boys were diagnosed defnitely from 465 suspicious cases of PKU. The incidence of PKU was 0.66 in 10,000, which was noted in<br />different severity (severe PKU ‑ 1:67,874, mild PKU ‑ 1:45,249, and HPA ‑ 1:33,937). In addition, we did not detect any cases of nonclassic PKU. </span></p><p><span class="fontstyle0"><strong>Conclusions</strong>: </span><span class="fontstyle2">Although the consanguineous marriage pattern is a major cause of hyperphenylalaninemia (HPA) particularly in Iranian, there was no<br />signifcant difference between groups in this study. Now, screening should be executed for all of the family that they have the familial history of PKU in Iran. According to varies actual of prevalence and incidence rate of PKU reported a real patient and taking PKU with mild PKU and HPA, it is recommended, the will provide the PKU reports based on the severity of the disease.<br /></span></p><p><span class="fontstyle0" style="color: #00652e;"><strong>Keywords</strong>: </span><span class="fontstyle3">Chromatography high‑pressure liquid, Iran, neonatal screening, phenylketonurias</span> <br style="font-style: normal; font-variant: normal; font-weight: normal; letter-spacing: normal; line-height: normal; orphans: 2; text-align: -webkit-auto; text-indent: 0px; text-transform: none; white-space: normal; widows: 2; word-spacing: 0px;" /></p>http://ijpm.mui.ac.ir/index.php/ijpm/article/view/1853http://ijpm.mui.ac.ir/index.php/ijpm/article/download/1853/2135