en Pediatrics Pediatrics پژوهشي Research <span style="font-size:9pt"><span minion="" pro="" style="font-family:"><b>Introduction</b>: Hereditary metabolic diseases are rare disorders individually, but in countries where family marriages are more common, such as Iran, they have a high prevalence, and in Ardabil Province, due to the fact that family and tribal marriages are more common, the prevalence of these disorders is higher. Since early diagnosis and follow-up treatment of these diseases are important to prevent irreparable damage, and on the other hand, these diseases involve different organs and have different clinical features. If the symptoms are detected, the complications, death, and disability of the disease will be prevented. Therefore, this study was decided to investigate the prevalence of congenital metabolic diseases in Ardabil province during the years 2016 to 2023.</span></span><br> <span style="font-size:9pt"><span minion="" pro="" style="font-family:"><b>Materials & Methods</b><b><span style="font-size:11.0pt"><span new="" roman="" style="font-family:" times="">: </span></span></b>In this cross-sectional descriptive study, a total of 195 children (114 boys and 81 girls) aged 1-15 years at Bu-Ali Hospital of Ardabil city were registered with congenital metabolic diseases based on specific biochemical, genetic, and clinical criteria different from those for metabolic syndrome. The data were collected in a checklist and analyzed in SPSS V.21 using descriptive statistical methods in the form of tables, graphs, frequencies, and percentages.<span lang="FA" dir="RTL" style="font-family:"Times New Roman","serif""></span></span></span><br> <span style="font-size:9pt"><span minion="" pro="" style="font-family:"><b>Results</b><b><span style="font-size:11.0pt"><span new="" roman="" style="font-family:" times="">: &nbsp;</span></span></b>The overall prevalence of congenital metabolic disorders among the studied children was 3.3 per thousand people. The most common types of congenital metabolic disorders in the studied children were phenylketonuria with 62 cases (31.8%) and urea cycle disorders with 26 cases (13.3%).</span></span><br> <span style="font-size:9pt"><span minion="" pro="" style="font-family:"><b>Conclusion</b><b><span style="font-size:11.0pt"><span new="" roman="" style="font-family:" times="">: &nbsp;</span></span></b>In this study, more than 20 different types of hereditary metabolic disorders were identified among children, and more than 81% of the children&#39;s parents were related</span></span><br> <span style="font-size:12pt"><span style="background:white"><span style="line-height:150%"><span new="" roman="" style="font-family:" times=""><span style="font-size:14.0pt"><span style="line-height:150%"></span></span></span></span></span></span> congenital disorders, children, phenylketonuria 30 37 http://jbrms.medilam.ac.ir/browse.php?a_code=A-10-962-5&slc_lang=en&sid=1 Leyla Katebi leyla.katebi1358@gmail.com 10031947532846008400 10031947532846008400 No Department of pediatrics, school of medicine, Ardabil University of medical sciences, aradabil, Iran Adel Ahadi ahadiadel42@gmail.com 10031947532846008401 10031947532846008401 Yes Department of pediatrics, school of medicine, Ardabil University of medical sciences, aradabil, Iran Firouz Amani biostat.f@gmail.com 10031947532846008402 10031947532846008402 No Department of Community medicine and biostatistics, school of medicine, Ardabil University of medical sciences, aradabil, Iran