The evaluation of phenylalanine levels in Estonian phenylketonuria patients during eight years by electronic laboratory records

Publication date: June 2019Source: Molecular Genetics and Metabolism Reports, Volume 19Author(s): Hardo Lilleväli, Karit Reinson, Kai Muru, Siret Saarsalu, Kadi Künnapas, Tiina Kahre, Ülle Murumets, Katrin ÕunapAbstractBlood 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 PAH 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 patient...
Source: Molecular Genetics and Metabolism Reports - Category: Genetics & Stem Cells Source Type: research