Phenylketonuria (PKU) is an autosomal recessive inborn error of phenylalanine metabolism
caused by deficiency in the enzyme phenylalanine hydroxylase that converts phenylalanine …

Early-treated phenylketonuria (PKU) is associated with a range of neuropsychological
impairments. Proposed mechanisms for these impairments include dopamine depletion and …

Abnormalities of magnetic resonance imaging (MRI) of the brain occur in some patients with
phenylketonuria but the clinical importance of this finding is not clear. In order to determine …

Abstract Treatment of hyperphenylalaninaemias due to phenylalanine hydroxylase
deficiency with a low phenylalanine (Phe) diet is highly successful in preventing …

Pathologic changes in the brain of untreated phenylketonuria (PKU) patients occur in
structures that develop post-natally, ie in myelination of subcortical white matter and spinal …

Studies published from 1980 through 2004, which explored intelligence and executive
function outcomes in early-treated PKU, were included in the present meta-analysis. The …

Objectives: To investigate the extent to which the abnormalities in cerebral white matter in
adolescents and adults with phenylketonuria (PKU) are reversible. Method: Magnetic …

In order to further clarify the pathogenesis and clinical significance of MRI white matter
abnormalities in treated hyperphenylalaninaemia (HPA), ten patients (seven type I HPA, two …

Objective: To gain insights into the nature and pathogenesis of white matter (WM)
abnormalities in PKU. Methods: Thirty-two patients with phenylalanine hydroxylase …

This study addresses how the timing of a known biological insult affects the developmental
progression of executive functions. The sample consisted of children exposed to elevated …