Analysis of dietary patterns and their role in long-term health is limited in phenylketonuria (PKU). Food frequency questionnaires (FFQ) are commonly used to assess habitual intake. A semi-quantitative 89-item FFQ with a portion size photographic booklet was developed for children with PKU as a tool for collecting data on habitual intake of foods, food groups, energy and macronutrient intake. Twenty children with PKU aged 11−16 years, 30 parents of children with PKU aged 4−10 years, and 50 age/gender-matched control children were recruited. To test reproducibility, FFQs were completed twice with a mean interval of 5 weeks (range: 4−10). In order to test validity, FFQs were compared with five 24-h dietary recalls with a mean interval of 10 days (range: 6−18). Energy and macronutrient intake and quantity/week of individual food items were calculated and compared. There was good reproducibility for the FFQ with macronutrient correlations r > 0.6 and good validity data with most correlations r > 0.5. Bland−Altman plots for reproducibility and validity showed mean levels close to 0 and usually within 2 standard deviations. FFQ comparisons of PKU and control groups identified expected differences in % energy from macronutrients (PKU vs. control: carbohydrate 59% vs. 51%, fat 26% vs. 33%, protein 15% vs. 16%). This FFQ for PKU produced comparable data to repeated dietary recalls and is a valid tool for collecting data on habitual food and nutrient intake. It will be useful in assessing changes in dietary phenylalanine tolerance of new pharmacological treatments for PKU.
Keywords: dietary patterns; food frequency questionnaire; phenylketonuria (PKU); reproducibility; validation.