{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,27]],"date-time":"2026-03-27T17:54:38Z","timestamp":1774634078553,"version":"3.50.1"},"reference-count":33,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2023,3,30]],"date-time":"2023-03-30T00:00:00Z","timestamp":1680134400000},"content-version":"vor","delay-in-days":88,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Pediatrics International"],"published-print":{"date-parts":[[2023,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Organic acidurias are a group of inborn errors of metabolism. They present a significant diagnostic challenge and are associated with serious morbidity and mortality. They are considered the most frequent inborn errors of metabolism among high\u2010risk children. Gas chromatography\u2013mass spectrometry is a reliable diagnostic technique for organic acidurias.<\/jats:p><jats:p>This hospital\u2010based study aimed to quantify the frequency of organic acidurias among a group of high\u2010risk Egyptian pediatric patients and to highlight the importance of high\u2010risk screening for such disorders.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>One hundred and fifty high\u2010risk children who presented to the inherited metabolic disease unit and the pediatric intensive care units of Cairo University Children Hospital were tested for urine organic acids using gas chromatography\u2013mass spectrometry.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Thirty percent (45\/150) of the patients were confirmed as having an altered organic acids profile. Neurological manifestations were the most common presentation. Glutaric aciduria type I and maple\u2010syrup urine disease were the most common disorders encountered among the group that was studied.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>Organic acid detection by gas chromatography\u2013mass spectrometry is key to the diagnosis of many metabolic disorders. Until a national expanded newborn screening program is established, high\u2010risk screening is strongly encouraged for the early detection of, and proper intervention for such disorders among Egyptian children.<\/jats:p><\/jats:sec>","DOI":"10.1111\/ped.15469","type":"journal-article","created":{"date-parts":[[2023,1,7]],"date-time":"2023-01-07T16:34:00Z","timestamp":1673109240000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Organic acidurias in Egyptian children: The urge for high\u2010risk screening"],"prefix":"10.1111","volume":"65","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-5222-2869","authenticated-orcid":false,"given":"Dina A.","family":"Mehaney","sequence":"first","affiliation":[{"name":"Clinical and Chemical Pathology Department Cairo University  Cairo Egypt"},{"name":"Gas Chromatography\u2010Mass Spectrometry laboratory Cairo University Children Hospital  Cairo 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