title: Sapropterin treatment does not enhance the health-related quality of life of patients with phenylketonuria and their parents.
abstract: OBJECTIVE
  Sapropterin causes reductions in blood phenylalanine concentrations in sensitive patients with phenylketonuria (PKU). We examined whether the subsequent relaxation of dietary restrictions influenced the quality of life (QoL) of patients and parents.
  
  
  METHODS
  The study cohort comprised 112 patients with PKU followed at the metabolic centre at Münster University Children's Hospital, Germany, from 2012 to 2015. A sapropterin response was defined as a ≥30% reduction in blood phenylalanine levels. The QoL of 38 children and adolescents from the study cohort, with a mean age of 12.4 (range 6.6-18.7) years, was assessed in an outpatient setting and 49 parents of children with PKU also commented on their child's QoL and their own. The participants' QoL was assessed before the start of therapy, and again after six months, using self-report questionnaires.
  
  
  RESULTS
  After six months of continuous therapy or diet, QoL was largely unchanged in the patients, according to their self-reports and the parental reports. QoL also remained unchanged in the parents.
  
  
  CONCLUSIONS
  Sapropterin did not seem to improve QoL in PKU patients and their parents. Patients with PKU had already reached high levels of QoL following classic diets, and these levels were not easily improved by sapropterin.
authors.affiliation: Department of General Pediatrics, Münster University Children's Hospital, Münster, Germany.
authors.forename: Reinhold
authors.initials: R
authors.lastname: Feldmann
authors.affiliation: Department of General Pediatrics, Münster University Children's Hospital, Münster, Germany.
authors.forename: Eva
authors.initials: E
authors.lastname: Wolfgart
authors.affiliation: Department of General Pediatrics, Münster University Children's Hospital, Münster, Germany.
authors.forename: Josef
authors.initials: J
authors.lastname: Weglage
authors.affiliation: Department of General Pediatrics, Münster University Children's Hospital, Münster, Germany.
authors.forename: Frank
authors.initials: F
authors.lastname: Rutsch
mesh_terms: D000293:Adolescent; D000328:Adult; D001708:Biopterins / Q000031:analogs & derivatives* / Q000627:therapeutic use; D002648:Child; D002675:Child, Preschool; D015331:Cohort Studies; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D010290:Parents / Q000523:psychology; D010661:Phenylketonurias / Q000178:diet therapy / Q000188:drug therapy* / Q000523:psychology; D011788:Quality of Life; D055815:Young Adult
chemical_list: D001708:Biopterins; C003402:sapropterin
keywords: Child self-report; Health-related quality of life; Parental self-report; Phenylketonuria; Sapropterin