Mol Genet Metab Rep 2019 Jun 23;19:100467. Epub 2019 Mar 23.
Department of Clinical Genetics, United Laboratories, Tartu University Hospital, Tartu, Estonia.
Blood phenylalanine (Phe) values from the dried blood spots of all Estonian phenylketonuria (PKU) patients have been deposited into a unified electronic laboratory database for eight years, providing an opportunity to assess the adherence of the patients to dietary recommendations over time and to observe patient practices both individually and collectively. Our results demonstrate generally good adherence to clinical and dietary recommendations during the first six years of life, as the percentage of patients with median Phe values fitting under the national recommendation levels were 95%, 84% and 70% in age groups 0-1, 1-2 and 2-6 years, respectively. Conversely, significant deviations occur in the group of 6 to 12 year-olds, mildly decreasing in adolescence and increasing in adulthood (43%, 53% and 57%, respectively). Wide individual differences occurred in all groups, especially in patients with a classical PKU phenotype caused by variants that fully abolish phenylalanine hydroxylase activity. Surprisingly, some of the best dietary adherence was seen in the late-diagnosed PKU patients with poor cognitive functioning. As a rule, the median of Phe values crosses the recommended thresholds in approximately one third to one half of the patients of each age group after the first two years of life.