Correlation of age‐specific phenylalanine levels with intellectual outcome in patients with phenylketonuria

Abstract

This study includes data collected from a retrospective chart review of patients with phenylketonuria treated at the University of Utah Metabolic Clinic. Among the approximately 175 patients treated for phenylketonuria at this clinic, 55 patients (28 female) met the inclusion criteria for the present study. Based on the diagnostic Phe level, 66.7% were classified as having classic phenylketonuria, 18.5% with moderate phenylketonuria, and 14.8% with mild phenylketonuria.

Brain White Matter Integrity Mediates the Relationship Between Phenylalanine Control and Executive Abilities in Children with Phenylketonuria

“…White matter compromise in individuals with PKU has been related to poorer Phe control (Anderson et al 2007;Das et al 2013;Hood et al 2014a), and this relationship has been shown more consistently when examined across the lifetime rather than at discrete points (Viau et al 2011). More rarely, significant relationships have been shown between white matter integrity and cognition in individuals with PKU (Peng et al 2004;Antenor-Dorsey et al 2013).…”

Dietary Habits and Metabolic Control in Adolescents and Young Adults with Phenylketonuria: Self-Imposed Protein Restriction May Be Harmful

“…10-15 years (target: < 15 mg/dl ¼ 900 mM) 3. Older than 15 years (target: < 20 mg/dl ¼ 1,200 mM) Both average phenylalanine levels and variation of phenylalanine levels over lifetime are supposed to influence the outcome of the disease (Burgard 2000;Anastasoaie et al 2008;Viau et al 2011). Via retrospective statistical analysis mean phenylalanine concentration in plasma as well as variation of plasma phenylalanine levels during lifetime were calculated.…”

Long-term developmental progression in infants and young children taking sapropterin for phenylketonuria: a two-year analysis of safety and efficacy

“…12,14,15 Deficits affecting language skills, visual-spatial abilities, processing speed, verbal comprehension, and perceptual reasoning skills have also been reported. 13,[16][17][18][19][20] A meta-analysis of Phe levels and IQ in 40 studies confirmed a significant negative correlation between blood Phe levels and IQ in individuals with PKU who were treated early. 21 Significant proportional correlations were present between Phe level and IQ during the critical period from 0 to 12 years of age, in which each 100-μmol/l increase in Phe was associated with a reduction Submitted Purpose: Sapropterin is an oral synthetic formulation of tetrahydrobiopterin prescribed as adjunctive therapy for phenylketonuria.…”

“…10 Early and continuous dietary therapy prevents the more severe neurological and intellectual dysfunction associated with classic PKU, but more subtle deficits in intelligence, academic achievement, and executive functioning can occur even in individuals with PKU who are treated early. [11][12][13] Despite functioning within the average range on tests of intelligence, children and adults with PKU have a lower mean intelligence quotient (IQ) than the general population. 12,14,15 Deficits affecting language skills, visual-spatial abilities, processing speed, verbal comprehension, and perceptual reasoning skills have also been reported.…”