title: Evaluation of effectiveness and outcome of PKU screening and management in the State of Sergipe, Brazil.
abstract: OBJECTIVE
  Phenylketonuria (PKU) was the first inherited metabolic disease known to cause mental retardation for which a newborn screening program (NBS) was developed. The objective of this study was to evaluate the effectiveness of PKU NBS and the management of cases in the northeastern Brazilian state of Sergipe (SE).
  
  
  METHODS
  We reviewed the phenylalanine concentrations in filter-paper collected from the heel (PKUneo) of 43,449 newborns; blood concentrations obtained by venipuncture in the subjects with abnormal PKUneo; the children's age at several phases of the program, the incidence of the disease from January 2007 to June 2008; and metabolic control of the patients.
  
  
  RESULTS
  The coverage of NBS/SE was 78.93%. The children's age was 10 ± 7 days at PKUneo collection. Twelve children were recalled based on the PKUneo cutoff value at 28 ± 13 days. From these, the concentrations of phenylalanine collected by venipuncture were normal in five children. The incidence of hyperphenylalaninemia was 1/43,449, and of PKU was 1/8,690 (5 cases). One suspected subject died. Another death occurred in the cohort, in a confirmed PKU case. PKU treatment began within 51 ± 12 days of life. In the four patients under dietary phenylalanine restriction, metabolic control was often difficult.
  
  
  CONCLUSIONS
  PKU NBS/SE has satisfactory coverage and adequate cutoff for recalling patients and diagnosis, but the onset of treatment is delayed, and follow-up metabolic control is frequently inadequate.
authors.affiliation: Department of Medicine, University Hospital, Universidade Federal de Sergipe, Aracaju, SE, Brazil.
authors.forename: Antônio R O
authors.initials: AR
authors.lastname: Ramalho
authors.affiliation: Department of Medicine, University Hospital, Universidade Federal de Sergipe, Aracaju, SE, Brazil.
authors.forename: Roberto J R
authors.initials: RJ
authors.lastname: Ramalho
authors.affiliation: Department of Medicine, University Hospital, Universidade Federal de Sergipe, Aracaju, SE, Brazil.
authors.forename: Carla R P
authors.initials: CR
authors.lastname: Oliveira
authors.affiliation: Department of Medicine, University Hospital, Universidade Federal de Sergipe, Aracaju, SE, Brazil.
authors.forename: Marta M G S
authors.initials: MM
authors.lastname: Magalhães
authors.affiliation: Department of Medicine, University Hospital, Universidade Federal de Sergipe, Aracaju, SE, Brazil.
authors.forename: Elenilde G
authors.initials: EG
authors.lastname: Santos
authors.affiliation: Department of Medicine, University Hospital, Universidade Federal de Sergipe, Aracaju, SE, Brazil.
authors.forename: Polyana M P
authors.initials: PM
authors.lastname: Sarmento
authors.affiliation: Department of Medicine, University Hospital, Universidade Federal de Sergipe, Aracaju, SE, Brazil.
authors.forename: Diana O
authors.initials: DO
authors.lastname: Matos
authors.affiliation: Department of Medicine, University Hospital, Universidade Federal de Sergipe, Aracaju, SE, Brazil.
authors.forename: Mario C P
authors.initials: MC
authors.lastname: Oliveira
authors.affiliation: Department of Medicine, University Hospital, Universidade Federal de Sergipe, Aracaju, SE, Brazil.
authors.forename: André L P
authors.initials: AL
authors.lastname: Oliveira
authors.affiliation: Department of Medicine, University Hospital, Universidade Federal de Sergipe, Aracaju, SE, Brazil.
authors.forename: Manuel H
authors.initials: MH
authors.lastname: Aguiar-Oliveira
mesh_terms: D015415:Biomarkers / Q000097:blood; D001800:Blood Specimen Collection / Q000379:methods; D001938:Brazil / Q000453:epidemiology; D003430:Cross-Sectional Studies; D005260:Female; D006801:Humans; D015994:Incidence; D007223:Infant; D007231:Infant, Newborn; D016014:Linear Models; D008297:Male; D015997:Neonatal Screening / Q000592:standards*; D010649:Phenylalanine / Q000097:blood*; D010661:Phenylketonurias / Q000175:diagnosis* / Q000453:epidemiology; D015397:Program Evaluation; D012016:Reference Values
chemical_list: D015415:Biomarkers; D010649:Phenylalanine