title: Phenylketonuria is still a major cause of mental retardation in Tunisia despite the possibility of treatment.
abstract: OBJECTIVE
  Accumulation of phenylalanine following a deficiency of phenylalanine hydroxylase activity generates a brain damage with mental retardation: phenylketonuria (PKU). In the developing countries, where PKU systematic neonatal screening program is not established yet, the management of PKU handicap is not properly carried out. The aim of this study was to estimate the frequency of the PKU diagnosed following clinical features anomalies, to provide information about the untreated PKU patients profile in Tunisia not covered by neonatal screening. Also it is stressed that treated patients have a normal development.
  
  
  METHODS
  This is a retrospective study of 156 cases of PKU detected in Tunisia over 20 years following symptoms suggestive of inherited metabolic disease. Phenylalaninemia level was performed by fluorometric method. Among them 9 patients were treated.
  
  
  RESULTS
  The PKU estimated frequency was 1/7631. The diagnosis mean age was 4 years. The phenylalaninemia mean was 1680 μmol/L; the classical PKU form accounted for 85.3% of cases and the dominant clinical symptoms were: mental retardation (88.2%), motor delays (87.7%), speech difficulties (83.2%) and pigmentation anomalies (61.7%). The treated patients responded to treatment and showed a normal development.
  
  
  CONCLUSIONS
  The establishment of neonatal screening should be a priority to avoid cases of mentally retardation.
authors.affiliation: Biochemistry Laboratory, La Rabta Hospital, 1007 Jebbari, Tunis, Tunisia.
authors.forename: Sameh
authors.initials: S
authors.lastname: Khemir
authors.forename: Monia
authors.initials: M
authors.lastname: El Asmi
authors.forename: Haifa
authors.initials: H
authors.lastname: Sanhaji
authors.forename: Moncef
authors.initials: M
authors.lastname: Feki
authors.forename: Riadh
authors.initials: R
authors.lastname: Jemaa
authors.forename: Neji
authors.initials: N
authors.lastname: Tebib
authors.forename: Jean Louis
authors.initials: JL
authors.lastname: Dhondt
authors.forename: Marie Françoise
authors.initials: MF
authors.lastname: Ben Dridi
authors.forename: Abderraouf
authors.initials: A
authors.lastname: Mebazaa
authors.forename: Naziha
authors.initials: N
authors.lastname: Kaabachi
mesh_terms: D017668:Age of Onset; D000596:Amino Acids / Q000097:blood / Q000652:urine; D002675:Child, Preschool; D002658:Developmental Disabilities / Q000453:epidemiology / Q000209:etiology; D005260:Female; D008401:Gas Chromatography-Mass Spectrometry; D006297:Health Services Accessibility; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000453:epidemiology / Q000209:etiology*; D008297:Male; D015997:Neonatal Screening; D010649:Phenylalanine / Q000097:blood; D010661:Phenylketonurias / Q000150:complications* / Q000453:epidemiology / Q000628:therapy; D010859:Pigmentation Disorders / Q000453:epidemiology / Q000209:etiology; D012189:Retrospective Studies; D013064:Speech Disorders / Q000453:epidemiology / Q000209:etiology; D014416:Tunisia / Q000453:epidemiology
chemical_list: D000596:Amino Acids; D010649:Phenylalanine