title: [Treatment and control of patients with phenylketonuria: results from the Collaborative Group of Spanish Follow-up Units].
abstract: OBJECTIVE
  To evaluate the management of phenylketonuria (PKU) in Spanish metabolic units and to develop a patients registry.
  
  
  METHODS
  PKU patients diagnosed and/or followed up in Spain, with phenylalanine values before treatment > 360 μmol/L. Registered anonymous data are those yielded by the units during 2010.
  
  
  RESULTS
  Data from the 18 Spanish Follow-up Units were collected. Eighty-three per cent of Units are multidisciplinary, all of them corresponding to control patients of all ages, with uniform management criteria. Data of 688 PKU patients were registered (median: 14 years [1 month-53 years], 41.5% are presently > 18-year-old. 71.8% patients came from neonatal screening; 15.8% have mild-PKU, 26% moderate-PKU and 51.5% classic-PKU. 78.6% patients are treated with protein-restricted diet, 9.3% with BH4 and free diet and 7.8% with BH4 and diet. Dietary control was good in 58.6% patients, intermediate in 26% and poor in 15.3%. Median (range) intellectual quotients was 97 (25-145). The number of neurological complications in late diagnosed patients was three-times higher than those of neonatal screening patients. 13.3% of adults had university studies and 37.5% had a stable couple.
  
  
  CONCLUSIONS
  This study allows for the first time the evaluation of the PKU management by Spanish PKU Follow-up Units, as well as the analysis and registry of controlled PKU patients. The study makes evident the need of adult Follow-up Units and the importance of neonatal screening for PKU patients prognosis.
authors.affiliation: Servicio de Neurología, Hospital Sant Joan de Déu, Universitat de Barcelona, Esplugues, Barcelona, Spain. campistol@hsjdbcn.org
authors.forename: Jaume
authors.initials: J
authors.lastname: Campistol
authors.forename: María Julieta
authors.initials: MJ
authors.lastname: González
authors.forename: Alfonso Pablo
authors.initials: AP
authors.lastname: Gutiérrez
authors.forename: María Antònia
authors.initials: MA
authors.lastname: Vilaseca
mesh_terms: D000293:Adolescent; D000328:Adult; D001708:Biopterins / Q000031:analogs & derivatives / Q000627:therapeutic use; D002648:Child; D002675:Child, Preschool; D003299:Cooperative Behavior; D004252:DNA Mutational Analysis; D057210:Delayed Diagnosis; D018753:Diet, Protein-Restricted; D005260:Female; D005500:Follow-Up Studies; D006757:Hospital Units / Q000706:statistics & numerical data; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000453:epidemiology / Q000209:etiology / Q000517:prevention & control; D008297:Male; D008875:Middle Aged; D010651:Phenylalanine Hydroxylase / Q000235:genetics; D010661:Phenylketonurias / Q000178:diet therapy* / Q000188:drug therapy / Q000453:epidemiology / Q000235:genetics; D011788:Quality of Life; D012042:Registries; D012959:Socioeconomic Factors; D013030:Spain / Q000453:epidemiology; D011795:Surveys and Questionnaires; D055815:Young Adult
chemical_list: D001708:Biopterins; D010651:Phenylalanine Hydroxylase; C003402:sapropterin