title: Experience with hyperphenylalaninemia in a developing country: unusual clinical manifestations and a novel gene mutation.
abstract: 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.
authors.affiliation: Department of Pediatrics and Adolescent Medicine, American University of Beirut, Beirut, Lebanon. pk06@aub.edu.lb
authors.forename: Pascale E
authors.initials: PE
authors.lastname: Karam
authors.forename: Rose T
authors.initials: RT
authors.lastname: Daher
authors.forename: Lisbeth B
authors.initials: LB
authors.lastname: Moller
authors.forename: Mohamad A
authors.initials: MA
authors.lastname: Mikati
mesh_terms: D002675:Child, Preschool; D004093:Dihydropteridine Reductase / Q000235:genetics*; D005260:Female; D005838:Genotype; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007861:Lebanon; D008297:Male; D015997:Neonatal Screening; D010661:Phenylketonurias / Q000175:diagnosis* / Q000235:genetics*
chemical_list: D004093:Dihydropteridine Reductase