One major contribution of neuroscience to understanding cognitive development has been in demonstrating that biology is not destiny-that is, demonstrating the remarkable role of experience in shaping the mind, brain, and body. Only rarely has neuroscience provided wholly new insights into cognitive development, but often it has provided evidence of mechanisms by which observations of developmen...

OBJECTIVE The development of guidelines for phenylketonuria (PKU) management in the United Kingdom has resulted in much discussion in the community of parents and PKU clinics and parents have asked why the United States does not have such guidelines. The objective of this report is to discuss PKU management in the United States, the British guidelines on PKU management, and the feasibility, sui...

OBJECTIVE To provide an overview of the diagnosis and management of phenylketonuria (PKU) in childhood with an emphasis on aspects relevant to family physicians providing ongoing care. SOURCES OF INFORMATION The author's experience as the clinic physician in a regional pediatric PKU clinic is supplemented with references providing evidence for key points. MAIN MESSAGE While metabolic clinic...

Can a court force on parents who are careful and conscientious a view of their child’s welfare which is rational, but quite contrary to the parents sincerely held but non-rational beliefs? The Supreme Court of Ireland has recently held that it cannot do so, and that the Irish Constitution requires that the right of the family to determine its own direction must be respected except in the most n...

OBJECTIVE To assess cognitive and behavioral outcome in treated maternal phenylketonuria (PKU) offspring. METHODS In this prospective, longitudinal study, 228 children who were born to mothers with treated PKU or untreated mild hyperphenylalaninemia were compared with 70 control subjects at 7 years of age. RESULTS Offspring cognitive outcome negatively correlated with the number of gestatio...

We report the case of an asymptomatic 2-month-old infant with 6-pyruvoyltetrahydropterin synthetase deficiency detected through a neonatal phenylketonuria screening program. MR imaging revealed symmetrical lesions in the central tegmental tract with reduced diffusion, which resolved after treatment. A possible explanation for these lesions is intramyelinic edema resulting from brain insults in ...

In an earlier study (Alexander et al., 1974) it was shown that the mineral mixture used in association with a synthetic diet was deficient in zinc, copper, iron, and manganese. A new mixture containing appropriately increased amounts of these trace metals has now been evaluated by means of metabolic balance studies carried out on children with phenylketonuria. This new mixture was shown to be s...

7 patients with phenylketonuria who developed neurological disability in adolescence or early adult life are described. 4 had been diagnosed by routine neonatal screening and started a low phenylalanine diet in infancy. 3 were diagnosed in early childhood because of developmental delay, and then started dietary treatment. Dietary control deteriorated in later years and was withdrawn in mid to l...

A total of 599 children with phenylketonuria, who had been treated early, were followed up prospectively in order to examine the association between intellectual progress from 4 to 14 years of age and control of phenylalanine concentrations. The phenylalanine rose from around 400 mumol/l during the first four years to above 900 mumol/l by 12 years. The children were divided into two cohorts: co...

We assessed the relationship between anxiety and long-term metabolic control in adolescents with phenylketonuria (PKU). We used a standardized psychological test to measure anxiety level and analyzed lifelong blood phenylalanine stability in a selected group of 25 PKU teenagers with treatment adherence problems. We demonstrated significant correlations of anxiety with variability of blood pheny...