Therapy compliance in children with phenylketonuria younger than 5 years: A cohort study

Abstract

Background. Phenylketonuria (PKU) is a metabolic disease. It is manifested by a complete or partial inability to convert phenylalanine (Phe) to tyrosine and leads to increased concentrations of Phe in the blood and in other tissues, including the brain, causing irreversible neurological damage if left untreated. Lowphenylalanine diet is a key component of classical PKU therapy. Objectives. The objective of this study was to assess the effectiveness of classical phenylketonuria therapy and compliance with doctors' recommendations in the first 5 years of life. Material and methods. Data was collected from all diagnosed and treated patients (n = 57) born 1999-2010. Phenylalanine blood levels, the number of visits to a specialist outpatients' center, the number of blood tests, as well as socioeconomic status (SES) and parents' education level have been analyzed, and potential relationships have been assessed. Results. In the 1 st year of life patients visited their doctors (odds ratio (OR) = 6.8267; 95% confidence interval (95% CI) = 2.827-16.5163; p < 0.0001) and had their blood collected (OR = 2.7875; 95% CI = 1.0467-7.4234; p < 0.0402) significantly more frequently than in the 2 nd year. This tendency persisted into subsequent years. Similarly, in infancy they had statistically significantly lower odds of exceeding more than 40% of their Phe levels over therapeutic range than 1 year later (OR = 3.6078; 95% CI = 1.4859-8.7599; p < 0.0046). No PKU child had more than 70% of Phe levels over the therapeutic range in the 1 st year of life, whereas 4 years later there were 18 such children. Phe levels were correlated with the number of visits to a specialist (ρ = 0.39) and the number of Phe blood tests with index of dietary control (ρ = −0.33). The effectiveness of therapy and compliance with the doctor's recommendations seem to depend neither on the level of education of the patient's parents nor on their SES. Conclusions. Therapy effectiveness and patients' compliance in PKU is very good in infancy. However, both deteriorate in subsequent years. Moreover, they do not seem to depend on the family background.

The Impact of the COVID-19 Pandemic on the Perception of Health and Treatment-Related Issues among Patients with Phenylketonuria in Poland—The Results of a National Online Survey

“…Similar to the findings concerning patients with cystic fibrosis (CF) [29], our patients also reported changes in daily routine during self-isolation; this was mostly unintentional non-adherence to treatment for CF, whereas, in our study, most respondents' self-reported adherence was better, though some reported poor adherence or complete non-adherence to their diet. As it has been shown earlier [30], compliance deteriorates with the patient's age, though this study suggests that compliance may also be influenced by external factors. Regardless of the readiness of the healthcare system, the application of telemedicine in the new COVID-19 reality is unquestionable.…”

Plasma amino acid levels in a cohort of patients in Turkey with classical phenylketonuria

“…Compliance with dietary treatment is most effective in infancy and childhood [18]. The diet severely interferes with culturally normal eating habits, particularly in older children and adolescents, and this often results in problems with compliance with dietary treatment recommendations [5,18].…”

Helicobacter pylori Infection in Children with Phenylketonuria Does Not Depend on Metabolic Control and Is Not More Frequent Than in Healthy Subjects—A Cross-Sectional Study

“…However, recent reports suggest that the risk of comorbidities is higher than in the general population [3][4][5][6]. This seems justified since the compliance decreases with age [7][8][9]. Burton et al [4] retrospectively analysed records of 3691 PKU patients and 18,455 matched non-PKU subjects in a case-controlled adult study (≥20 years old) based upon United States insurance claims databases between 1998 and 2014 to assess the prevalence of comorbidities.…”