Can untreated PKU patients escape from intellectual disability? A systematic review.
Danique van VlietAnnemiek M J van WegbergKirsten AhringMiroslaw Bik-MultanowskiNenad BlauFatma D BulutKari CasasBozena DidyczMaja DjordjevicAntonio FedericoFrançois FeilletMaria GizewskaGwendolyn GramerJozef L HertecantCarla E M HollakJens V JørgensenDaniela KarallYuval LandauVincenzo LeuzziPer MathisenKathryn MoseleyNeslihan Ö MunganFrancesca NardecchiaKatrin ÕunapKimberly K PowellRadha RamachandranFrank RutschAria SetoodehMaja StojiljkovicFritz K TrefzNatalia UsureluCallum WilsonClara D van KarnebeekWilliam B HanleyFrancjan J van SpronsenPublished in: Orphanet journal of rare diseases (2018)
Based on the present findings, the classical symptomatology of untreated or late-treated PKU may need to be rewritten, not only in the sense that intellectual dysfunction is not obligatory, but also in the sense that intellectual functioning does not (re)present the full picture of brain damage due to high plasma phenylalanine concentrations. Further identification of such patients and additional analyses are necessary to better understand these differences between PKU patients.