查看文章

Although pathogenesis of phenylketonuria is not completely understood, a low phenylalanine diet is effective to prevent severe neurological impairment, mental retardation and behavioural difficulties. Treatment recommendations heavily rely on neuropsychological research; however, single study results are ambiguous, what is reflected in substantial variation of US, British, German, Dutch and French recommendations for blood phenylalanine concentrations for adolescents and adults. We conducted a meta-analysis estimating the influence of age, phenylalanine level, and type of neuropsychological test on effect sizes (standardized differences between controls and patients) of computer-based speed measurements in phenylketonuric patients. The effect of blood phenylalanine level on effect size was more pronounced in children and adolescents than in adults, with choice reaction time being particularly sensitive …