The Iranian Pediatric Association has highlighted the vital role of newborn screening during the first days of life, stating that the National Phenylketonuria (PKU) Screening Program, implemented since 2007, has prevented irreversible neurological damage and intellectual disability in thousands of children through early diagnosis and timely nutritional intervention.
\nAccording to the Public Relations Office of the Iranian Pediatric Association, June 28 (corresponding to Tir 7 in the Iranian calendar) has been designated as World PKU Awareness Day by the European Society for Phenylketonuria (E.S.PKU). On this occasion, the Association emphasized the importance of early diagnosis, prompt treatment, and continuous support for individuals affected by this inherited metabolic disorder.
\nPhenylketonuria (PKU) is one of the most common inherited metabolic diseases. If left undiagnosed and untreated, it can lead to severe and irreversible neurological damage as well as intellectual disability. Iran’s National PKU Screening Program was launched in 2007, using heel-prick blood samples collected from newborns between the third and fifth days of life. Since its implementation, the program has played a significant role in preventing the serious complications associated with the disease.
\nAccording to the report, the expansion of the national newborn screening program in 2017 enabled the simultaneous detection of 53 inherited metabolic disorders using tandem mass spectrometry (MS\/MS). Among these disorders, PKU has been the most frequently diagnosed condition. The program is currently implemented across more than 20 medical universities throughout the country, while laboratory analyses are performed in nine designated reference centers located in Tehran, Shiraz, Isfahan, Mashhad, Sari, and Babol, in accordance with established quality control standards.
\nNewborns diagnosed through the screening program are referred to one of 37 designated hospitals staffed by specially trained multidisciplinary teams, where they receive standardized medical care, individualized dietary management, and ongoing monitoring of growth and neurodevelopment. In addition, genetic counseling services are provided through the primary healthcare system to families with affected children.
\nAccording to the latest meta-analysis published in 2026, which evaluated data from nearly two million Iranian newborns, the prevalence of confirmed PKU in Iran was estimated at 16.7 cases per 100,000 live births, substantially higher than the global average of 6.4 cases per 100,000 live births. The report also found that Isfahan Province had the highest prevalence, with 58.4 cases per 100,000 live births, while Hormozgan Province had the lowest prevalence, with 3.7 cases per 100,000 live births. Furthermore, approximately 53% of diagnosed cases were classified as the milder form of hyperphenylalaninemia.
\nThe Iranian Pediatric Association also underscored the pivotal role of pediatricians in the diagnosis of PKU, the adjustment of therapeutic dietary regimens, and the long-term follow-up of affected patients. It noted that the continued success of the national screening program depends on sustainable funding, uninterrupted access to phenylalanine-free specialized formulas and medical foods, and greater public awareness among families.
\nThe report concluded by expressing appreciation for the efforts of all healthcare professionals involved in Iran’s National Newborn Screening Program and emphasized the need to further strengthen supportive services and educational infrastructure in order to improve the quality of life of individuals living with phenylketonuria.<\/p>\n","protected":false},"excerpt":{"rendered":"
The Iranian Pediatric Association has highlighted the vital role of newborn screening during the first days of life, stating that the National Phenylketonuria (PKU) Screening Program, implemented since 2007, has prevented irreversible neurological damage and intellectual disability in thousands of children through early diagnosis and timely nutritional intervention. According to the Public Relations Office of […]<\/p>\n","protected":false},"author":125,"featured_media":47513,"comment_status":"open","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"_acf_changed":false,"footnotes":""},"categories":[498],"tags":[],"class_list":["post-47512","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-news-3"],"acf":[],"_links":{"self":[{"href":"https:\/\/irpediatrics.com\/en\/wp-json\/wp\/v2\/posts\/47512","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/irpediatrics.com\/en\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/irpediatrics.com\/en\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/irpediatrics.com\/en\/wp-json\/wp\/v2\/users\/125"}],"replies":[{"embeddable":true,"href":"https:\/\/irpediatrics.com\/en\/wp-json\/wp\/v2\/comments?post=47512"}],"version-history":[{"count":1,"href":"https:\/\/irpediatrics.com\/en\/wp-json\/wp\/v2\/posts\/47512\/revisions"}],"predecessor-version":[{"id":47514,"href":"https:\/\/irpediatrics.com\/en\/wp-json\/wp\/v2\/posts\/47512\/revisions\/47514"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/irpediatrics.com\/en\/wp-json\/wp\/v2\/media\/47513"}],"wp:attachment":[{"href":"https:\/\/irpediatrics.com\/en\/wp-json\/wp\/v2\/media?parent=47512"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/irpediatrics.com\/en\/wp-json\/wp\/v2\/categories?post=47512"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/irpediatrics.com\/en\/wp-json\/wp\/v2\/tags?post=47512"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}