{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,16]],"date-time":"2026-07-16T12:23:18Z","timestamp":1784204598744,"version":"3.55.0"},"reference-count":9,"publisher":"SAGE Publications","issue":"2","license":[{"start":{"date-parts":[[2010,9,7]],"date-time":"2010-09-07T00:00:00Z","timestamp":1283817600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["J Child Neurol"],"published-print":{"date-parts":[[2011,2]]},"abstract":"<jats:p>We report our experience in a cohort of patients with hyperphenylalaninemia in a tertiary care referral center in Lebanon. Forty-one sequential patients were studied: 34 classical phenylketonuria (PKU), 3 hyperphenylalaninemia (non-PKU), and 4 biopterin metabolism defects. The majority of cases were clinically diagnosed at variable ages with variable neurological outcomes. Only 29.3% were detected by neonatal screening. Two unusual cases were observed in the context of inadequate treatment in 1 and delayed therapy in the other: a newborn with PKU developed severe keratomalacia; and a 5-year-old girl with dihydropteridine reductase deficiency due to a novel mutation identified in the quinoid dihydropteridine reductase gene developed Lennox-Gastaut syndrome and white matter changes with periventricular cysts. Part of our experience parallels that in the West. However, the clinical manifestations observed in our patients emphasize the importance of a national newborn screening program with efficient management of diagnosed cases.<\/jats:p>","DOI":"10.1177\/0883073810375116","type":"journal-article","created":{"date-parts":[[2010,9,7]],"date-time":"2010-09-07T20:19:01Z","timestamp":1283890741000},"page":"142-146","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":11,"title":["Experience With Hyperphenylalaninemia in a Developing Country: Unusual Clinical Manifestations and a Novel Gene Mutation"],"prefix":"10.1177","volume":"26","author":[{"given":"Pascale E.","family":"Karam","sequence":"first","affiliation":[{"name":"Department of Pediatrics and Adolescent Medicine, American University of Beirut, Beirut, Lebanon,"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rose T.","family":"Daher","sequence":"additional","affiliation":[{"name":"Department of Pathology and Laboratory Medicine, American University of Beirut, Beirut, Lebanon"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lisbeth B.","family":"Moller","sequence":"additional","affiliation":[{"name":"The Kennedy Center, Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mohamad A.","family":"Mikati","sequence":"additional","affiliation":[{"name":"Adult and Pediatric Epilepsy Program, Department of Pediatrics and Adolescent Medicine, American University of Beirut, Beirut, Lebanon"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"179","published-online":{"date-parts":[[2010,9,7]]},"reference":[{"key":"atypb1","volume-title":"Hyperphenylalaninemia: phenylalanine hydroxylase deficiency","author":"Schriver CR","year":"2008","edition":"8"},{"key":"atypb2","doi-asserted-by":"publisher","DOI":"10.1177\/08830738060210111401"},{"issue":"3","key":"atypb3","first-page":"202","volume":"34","author":"Acosta PB","year":"2003","journal-title":"South-east Asian J Trop Med Public Health"},{"key":"atypb4","doi-asserted-by":"publisher","DOI":"10.5144\/0256-4947.2003.16"},{"key":"atypb5","first-page":"97","volume":"43","author":"Ozalp I.","year":"2001","journal-title":"Turk J Pediatr"},{"key":"atypb6","doi-asserted-by":"publisher","DOI":"10.1097\/ICO.0b013e31803d1617"},{"key":"atypb7","doi-asserted-by":"publisher","DOI":"10.1097\/00004728-199009000-00003"},{"key":"atypb8","doi-asserted-by":"publisher","DOI":"10.1620\/tjem.132.123"},{"key":"atypb9","volume-title":"BIOMDB: Summary of mutations","year":"2010"}],"container-title":["Journal of Child Neurology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/0883073810375116","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/0883073810375116","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,4,29]],"date-time":"2026-04-29T20:36:05Z","timestamp":1777494965000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.sagepub.com\/doi\/10.1177\/0883073810375116"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2010,9,7]]},"references-count":9,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2011,2]]}},"alternative-id":["10.1177\/0883073810375116"],"URL":"https:\/\/doi.org\/10.1177\/0883073810375116","relation":{},"ISSN":["0883-0738","1708-8283"],"issn-type":[{"value":"0883-0738","type":"print"},{"value":"1708-8283","type":"electronic"}],"subject":[],"published":{"date-parts":[[2010,9,7]]}}}