Previous research shows consistent and marked executive function impairment in children with early and continuously treated phenylketonuria. This between groups analysis (phenylketonuria group vs sibling controls) found no significant differences in executive function (although adolescents with phenylketonuria performed slightly worse than their siblings). Biochemical relationships with executi...

OBJECTIVE To explore the pregnancy-related stresses anticipated and experienced by women with phenylketonuria (PKU) and the coping strategies and supports utilised or anticipated to be beneficial during pregnancy. METHODS Thematic analysis of interview data from eight women with PKU in a cross-sectional, qualitative study. Five of the participants had never had a pregnancy but were planning t...

A case of phenylketonuria presented below was associated with leucodystrophy (Schilder's disease), a combination previously observed by other workers in three older phenylketonuric patients. The present case was the oldest patient in a series of six phenylketonuric individuals coming to necropsy and examined pathologically at this hospital. None of the other patients, four of whom were reported...

We adapted the method of McCaman and Robins for fluorometry of phenylalanine to a microplate assay for routine phenylketonuria screening. Sensitivity is 15 mumol/L for the plasma assay and 30 mumol/L for the dried blood-spot assay, with CV less than 10% for both assays. Results for human plasma by microplate assay correlated well (r = 0.99) with results of amino acid analyzer determination of p...

AIM The purpose of this review was to provide an update on cognitive function in individuals with mild hyperphenylalaninemia (mHPA), the most clinically and biochemically benign form of phenylketonuria. METHOD A review was conducted of the existing literature on mHPA. Individuals with mHPA, whose plasma phenylalanine concentration had always remained lower than 360 μmol/L without dietary rest...

BACKGROUND Metabolic control in phenylketonuria (PKU) may be influenced by parental ability because dietary treatment involves complex food choices. This is an observational study to compare maternal carer (MC) knowledge and parental education with phenylalanine concentrations in children with PKU. METHODS Children (n = 46; 26 boys) aged 1-10 years (median age 6 years) on dietary treatment we...

Based on the example of psycho-education project for PKU (Phenylketonuria), patients and carers in Pomerania region (Poland), could draw general conclusion: for the improvement of patients well-being, not only medical care, but also psychological knowledge and skills are very important. Some psychological skills are crucial to cope efficiently with the disease and patients and carers should be ...

AIM To investigate adherence to dietary treatment and quality of life (QoL) in patients with phenylketonuria (PKU). METHODS In the setting of a tertiary paediatric hospital, 41 early-treated patients affected by PKU aged more than 3 years old were enrolled in a cross-sectional study. Three-days dietary assessment, QoL questionnaires for patients<18 years old (Child Health Questionnaire) and S...

OBJECTIVE To measure change in patient activation and self-efficacy in individuals with phenylketonuria (PKU) before and after a 6-month phone-based motivational interviewing (MI) intervention and determine the feasibility of implementing dietary counseling for PKU using an MI approach. METHODS Participants (n = 31) included preadolescents (7-12 years), adolescents (13-17 years), and adults (...