Outcomes beyond phenylalanine: An international perspective☆

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.…”

Successful Live Birth following Preimplantation Genetic Diagnosis for Phenylketonuria in Day 3 Embryos by Specific Mutation Analysis and Elective Single Embryo Transfer

“…This correspondence outlined the adverse effects of PKU on the quality of life of patients and their caregivers, especially in childhood when a strict diet is required until the age of 10 years, and in adolescence when the diet compliance proves to be more difficult. In adulthood, self-management of the condition becomes quite challenging and poses great difficulties both psychologically and socially (Feillet et al 2010a;Macdonald et al 2010). The cost, inconvenience, and sometimes difficult access to PKU diet increase the difficulty of adhering to it.…”

“…Individuals with homozygous mutations in the phenylalanine hydroxylase (PAH) gene lack the enzyme PAH that is essential for the breakdown of the amino acid phenylalanine. Accumulation of phenylalanine in the body can cause damage to the central nervous system and subsequently cognitive and behavioural abnormalities and mental retardation in both children and adults (Mitchell et al 2011;Enns et al 2010;Feillet et al 2010a).…”

“…Treatment consists of a diet low in phenylalanine starting shortly after birth and continued into adulthood ('diet for life') (Feillet et al 2010a). If the disorder is untreated it can result in severe mental retardation by the end of the first year of life.…”

Sapropterin in the Treatment of Phenylketonuria

“…desired effects, side-effects, cultural acceptance of treatment and diet versus non-diet treatment should be applied. 37 We know that adolescents and young adults generally do not comply with the recommendations for the monitoring and the control of phenylalanine concentrations. Should phenylketonuria be proven dangerous in adults as it is in infants, maintenance of good dietary control beyond childhood will become increasingly important, and more acceptable modes of treatment than diet will need to be developed.…”