Longitudinal Dietary Intake Data in Patients with Phenylketonuria from Europe: The Impact of Age and Phenylketonuria Severity.

In phenylketonuria (PKU), natural protein intake is thought to increase with age, particularly during childhood and adolescence. Longitudinal dietary intake data are scarce and lifelong phenylalanine tolerance remains unknown. Nine centres managing PKU in Europe and Turkey participated in a retrospective study. Data were collected from dietetic records between 2012 and 2018 on phenylalanine (Phe), natural protein, and protein substitute intake. A total of 1323 patients (age range: 1-57 y; 51% male) participated. Dietary intake data were available on 1163 (88%) patients. Patient numbers ranged from 59 to 320 in each centre. A total of 625 (47%) had classical PKU (cPKU), n = 357 (27%) had mild PKU (mPKU), n = 325 (25%) had hyperphenylalaninemia (HPA), and n = 16 (1%) were unknown. The mean percentage of blood Phe levels within target ranged from 65 ± 54% to 88 ± 49%. When intake was expressed as g/day, the mean Phe/natural protein and protein equivalent from protein substitute gradually increased during childhood, reaching a peak in adolescence, and then remained consistent during adulthood. When intake was expressed per kg body weight (g/kg/day), there was a decline in Phe/natural protein, protein equivalent from protein substitute, and total protein with increasing age. Overall, the mean daily intake (kg/day) was as follows: Phe, 904 mg ± 761 (22 ± 23 mg/kg/day), natural protein 19 g ± 16 (0.5 g/kg/day ± 0.5), protein equivalent from protein substitute 39 g ± 22 (1.1 g/kg/day ± 0.6), and total protein 59 g ± 21 (1.7 g/kg/day ± 0.6). Natural protein tolerance was similar between males and females. Patients with mPKU tolerated around 50% less Phe/natural protein than HPA, but 50% more than cPKU. Higher intakes of natural protein were observed in Southern Europe, with a higher prevalence of HPA and mPKU compared with patients from Northern European centres. Natural protein intake doubled with sapropterin usage. In sapropterin-responsive patients, 31% no longer used protein substitutes. Close monitoring and optimisation of protein intake prescriptions are needed, along with future guidelines specifically for different age groups and severities.

Blood Phenylalanine Levels in Patients with Phenylketonuria from Europe between 2012 and 2018: Is It a Changing Landscape?

BACKGROUND: In 2011, a European phenylketonuria (PKU) survey reported that the blood phenylalanine (Phe) levels were well controlled in early life but deteriorated with age. Other studies have shown similar results across the globe. Different target blood Phe levels have been used throughout the years, and, in 2017, the European PKU guidelines defined new targets for blood Phe levels. This study aimed to evaluate blood Phe control in patients with PKU across Europe. METHODS: nine centres managing PKU in Europe and Turkey participated. Data were collected retrospectively from medical and dietetic records between 2012 and 2018 on blood Phe levels, PKU severity, and medications. RESULTS: A total of 1323 patients (age range:1-57, 51% male) participated. Patient numbers ranged from 59 to 320 in each centre. The most common phenotype was classical PKU (n = 625, 48%), followed by mild PKU (n = 357, 27%) and hyperphenylalaninemia (HPA) (n = 325, 25%). The mean percentage of blood Phe levels within the target range ranged from 65 ± 54% to 88 ± 49% for all centres. The percentage of Phe levels within the target range declined with increasing age (<2 years: 89%; 2-5 years: 84%; 6-12 years: 73%; 13-18 years: 85%; 19-30 years: 64%; 31-40 years: 59%; and ≥41 years: 40%). The mean blood Phe levels were significantly lower and the percentage within the target range was significantly higher (p < 0.001) in patients with HPA (290 ± 325 µmol/L; 96 ± 24%) and mild PKU (365 ± 224 µmol/L; 77 ± 36%) compared to classical PKU (458 ± 350 µmol/L, 54 ± 46%). There was no difference between males and females in the mean blood Phe levels (p = 0.939), but the percentage of Phe levels within the target range was higher in females among school-age children (6-12 years; 83% in females vs. 78% in males; p = 0.005), adolescents (13-18 years; 62% in females vs. 59% in males; p = 0.034) and adults (31-40 years; 65% in females vs. 41% in males; p < 0.001 and >41 years; 43% in females vs. 28% in males; p < 0.001). Patients treated with sapropterin (n = 222) had statistically significantly lower Phe levels compared to diet-only-treated patients (mean 391 ± 334 µmol/L; percentage within target 84 ± 39% vs. 406 ± 334 µmol/L; 73 ± 41%; p < 0.001), although a blood Phe mean difference of 15 µmol/L may not be clinically relevant. An increased frequency of blood Phe monitoring was associated with better metabolic control (p < 0.05). The mean blood Phe (% Phe levels within target) from blood Phe samples collected weekly was 271 ± 204 µmol/L, (81 ± 33%); for once every 2 weeks, it was 376 ± 262 µmol/L, (78 ± 42%); for once every 4 weeks, it was 426 ± 282 µmol/L, (71 ± 50%); and less than monthly samples, it was 534 ± 468 µmol/L, (70 ± 58%). CONCLUSIONS: Overall, blood Phe control deteriorated with age. A higher frequency of blood sampling was associated with better blood Phe control with less variability. The severity of PKU and the available treatments and resources may impact the blood Phe control achieved by each treatment centre.

Familial dietary intervention in children with excess body weight and its impact on eating habits, anthropometric and biochemical parameters.

Introduction: Obesity is considered a civilisation disease which increases mortality and impairs quality of life, also among children and adolescents. The prevalence of overweight and obesity is steadily increasing in the developmental age population. Environmental factors are responsible for the main reason of excessive adipose tissue accumulation. Among these, poor eating habits and lack of exercise play the largest role. Familial prevalence of obesity and family dietary patterns also receive significant attention. Many specialists believe that the treatment of obesity should be multidirectional, effective and minimally invasive. Therefore, effective and safe methods are being investigated to effectively reduce body weight and improve eating habits. Dietary education programmes are an alternative to improve the health status of obese and overweight children and adolescents. To be fully effective, these programmes should involve the whole family. Aim of the study: In the face of constantly increasing prevalence of overweight and obesity in the developmental age population and the lack of effective methods to combat its occurrence, it seems appropriate to try to assess the effectiveness of a one-year-long dietary education of children and adolescents with excess body weight on their eating habits and the eating habits of their mothers, as well as selected anthropometric and biochemical parameters in these children using a simple educational tool, the Healthy Food Pyramid. Patients and methods: The study group consisted of 68 children with overweight and obesity, patients of the Department of Paediatrics, Endocrinology, Diabetology, Metabolic Diseases and Cardiology of the Developmental Age of the Pomeranian Medical University in Szczecin. The study used a proprietary questionnaire to assess dietary habits. Patients participated in six individual educational meetings over a twelve-month period. Eating habits were assessed in children and mothers before and after dietary intervention. Sixty-seven questionnaires before and after the dietary intervention were used for analysis. Results: Sixty-eight children completed the study. Those who did not complete the study came from families living in rural areas and their mothers mostly had primary or vocational education. One-year dietary education resulted in significant improvements in body weight, waist and hip circumference, WHtR and selected measured carbohydrate and lipid metabolism parameters with the exception of total cholesterol. The one-year dietary intervention did not have the same effect on the change in dietary habits in children and in their mothers.

Impact of One-Year Dietary Education on Change in Selected Anthropometric and Biochemical Parameters in Children with Excess Body Weight.

Obesity is regarded as a civilization disease that increases mortality and the risk of cardiovascular complications. In Poland, the prevalence of excess body weight in the paediatric population has been steadily increasing. The consequences of excess body weight in the developmental age population affect children's health and destabilize their development. Appropriate dietary interventions are the main non-invasive methods of preventing and treating obesity. They should be aimed at the whole family, optimally with the use of simple tools such as the Healthy Eating Pyramid. Due to the increasing prevalence of excess body weight in the developmental age population and the problems with the treatment of this condition, studies were undertaken in order to determine the impact of a dietary intervention on anthropometric and biochemical parameters in children with excess body weight. A total of 68 (72.3%) children completed the study. Based on BMI SDS, 59 (86.8%) were diagnosed with obesity and 9 (13.2%) with overweight. After the completion of the one-year dietary educational program, a significant improvement in weight loss, waist and hip circumference, as well as the value of the WHtR index was demonstrated. There was also a significant increase in the percentage of muscle tissue and a decrease in the content of adipose tissue in the bodies of examined children. A significant improvement in the parameters of carbohydrate metabolism, and almost all parameters of lipid metabolism, except for total cholesterol. A significant (by 28.0%) reduction in the incidence of fatty liver was also noted. No influence of dietary education on arterial blood pressure was observed.

The influence of maternal nutritional behavior on the nutritional behavior of children with excess body weight.

INTRODUCTION: Obesity is a chronic systemic metabolic disease, which is increasingly prevalent also in children. Obesity carries a risk of numerous complications. The factors that cause excessive weight gain in children are improper eating habits and maternal obesity. The role of mothers manifests mainly in influencing the food preferences of their children. Aim of the study: To analyse the relationship between the selected eating habits of mothers and the eating habits of their children with excess body weight before and after dietary intervention. MATERIAL AND METHODS: The study group consisted of 68 overweight and obese children - patients of our department. The study used the author's questionnaire for assessing eating habits. The eating habits were assessed in children and mothers. RESULTS: After dietary intervention reduction in mean BMI-SDS of 0.80 ±0.96 (p < 0.00001) was observed in children. Before dietary education, there was a significant relationship between mothers' correct habits and children's habits of, e.g., eating breakfast, cereal products drinking water, and consuming milk. Despite the dietary intervention, the influence of negative mothers' habits on the habits of their children was still observed. CONCLUSIONS: The influence of selected correct and incorrect mothers' eating habits on shaping the eating habits of their children with excess body weight before and after dietary intervention was demonstrated. Before and after dietary intervention, this concerned, e.g., the number of eaten meals and the frequency of consuming sweets and fast food. No relationship was found between mother and child in the frequency of consumption of vegetables.