title: Long-term outcomes of blood phenylalanine concentrations in children with classical phenylketonuria.
abstract: We are reporting a retrospective review of blood phenylalanine (Phe) concentrations in 33 patients with classical phenylketonuria (PKU) born between 1991 and 2009 and continuously followed up in our clinic in 2009. As an indicator of blood Phe control, we analysed the percentage of blood Phe concentrations within and outside of the treatment range for each individual for treatment periods between 1 month and 12 months, 1 to 6 years, and 6 to 12 years of age. Despite early diagnosis and medical management in a centralized care model, only approximately 40% of patients had 60% and more of their blood Phe concentrations within the treatment range during their lifetime treatment periods. There was no statistical difference for the percentage of blood Phe concentrations within the treatment range, the mean Phe concentrations or the SD between the various treatment periods. We found a correlation between Phe tolerance and percentage of blood Phe concentrations within the treatment range. Patients born between 1991 and 1999 had poorer control than those born later. A frequent quality assurance audit is recommended to assess treatment outcomes in clinics providing care to children with PKU.
authors: Division of Biochemical Diseases, British Columbia Children's Hospital, Vancouver, BC, Canada.
authors: Carol
authors: C
authors: Hartnett
authors: Ramona
authors: R
authors: Salvarinova-Zivkovic
authors: Eva
authors: E
authors: Yap-Todos
authors: Barbara
authors: B
authors: Cheng
authors: Alette
authors: A
authors: Giezen
authors: Gabriella
authors: G
authors: Horvath
authors: Yolanda
authors: Y
authors: Lillquist
authors: Hilary
authors: H
authors: Vallance
authors: Sylvia
authors: S
authors: Stockler-Ipsiroglu
mesh_terms: D002648:Child; D002675:Child, Preschool; D005260:Female; D006801:Humans; D007223:Infant; D008297:Male; D010649:Phenylalanine / Q000097:blood*; D010661:Phenylketonurias / Q000097:blood* / Q000175:diagnosis / Q000628:therapy; D012189:Retrospective Studies; D016896:Treatment Outcome
chemical_list: D010649:Phenylalanine