Health-related quality of life in a european sample of adults with early-treated classical PKU.

BACKGROUND: Phenylketonuria (PKU) is a rare inborn error of metabolism affecting the catabolism of phenylalanine (Phe). To date, findings regarding health-related quality of life (HRQoL) in adults with early-treated classical PKU are discrepant. Moreover, little is known about metabolic, demographic, and cognitive factors associated with HRQoL. Hence, we aimed to investigate HRQoL and its association with demographic, metabolic, and cognitive characteristics in a large European sample of adults with early-treated classical PKU. RESULTS: This cross-sectional study included 124 adults with early-treated classical PKU from Hungary, Italy, Spain, Switzerland, and Turkey. All participants prospectively completed the PKU quality of life questionnaire (PKU-QoL), a questionnaire specifically designed to evaluate the impact of PKU and its treatment on HRQoL in individuals with PKU. In addition, information about Phe levels (concurrent and past year), demographic (age and sex), and cognitive variables (intelligence quotient, IQ) were collected. Most domains revealed little or no impact of PKU on HRQoL and more than three-quarters of the patients rated their health status as good, very good, or excellent. Nevertheless, some areas of concern for patients were identified. Patients were worried about the guilt that they experience if they do not adhere to the dietary protein restriction and they were most concerned about high Phe levels during pregnancy. Further, tiredness was the most affected symptom, and the supplements' taste was considered a main issue for individuals with PKU. The overall impact of PKU on HRQoL was higher in women (U = 1315.5, p = .012) and in adults with a lower IQ (rs = - 0.448, p = .005). The overall impact of dietary protein restriction was higher in adults with higher concurrent Phe levels (rs = 0.272, p = .007) and higher Phe levels during the past year (rs = 0.280, p = .009). CONCLUSION: The impact of PKU on most domains assessed in the PKU-QoL was considered to be low. These results likely reflect the successful implementation of the newborn screening resulting in the prevention of severe adverse long-term outcomes. However, a particular clinical focus should be given to patients with lower IQ, higher Phe levels, and women, as these variables were associated with a lower HRQoL.

Inulin may prevent steatosis by suppressing cannabinoid receptor-1 and patatin-like phospholipase-3 expression in liver.

OBJECTIVES: Non-alcoholic fatty liver disease (NAFLD) is one of the major causes of liver disease worldwide. Although various molecular mechanisms are effective in the initiation and progression, the exact pathway is not completely clarified. Recent findings suggest a role of the endocannabinoid system in the pathology of NAFLD. Inulin has been shown to be beneficial for NAFLD. With the first study, we investigated the effects of inulin supplementation on NAFLD via the endocannabinoid system in Wistar rats fed high-fat diet. METHODS: Male Wistar rats were fed with control, control plus inulin, high-fat, and high-fat plus inulin diets for 12 wk. Inulin was added to diets in 15% weight/weight. Biochemical parameters, insulin, and adiponectin levels were determined. Steatosis, lobular inflammation, and total NAFLD activity scores (NAS) were determined by histopathological analysis and by magnetic resonance imaging. Anandamide and 2-arachidonylglycerol levels were measured by the liquid chromatography-tandem mass spectrometry method. Gene expression levels were determined by the quantitative polymerase chain reaction method. RESULTS: Our results showed that the NAS of the high-fat diet was 4.16 ± 0.30, which was significantly higher than that of the other groups. Inulin decreased Homeostasis model assessment measuring insulin resistance (HOMA-IR), serum triacylglycerol, total cholesterol, and Aspartate aminotransferaselevels. Inulin also significantly decreased Cannabinoid receptor-1 and Patatin-like phospholipase-3 gene expressions in the liver. The 2-arachidonylglycerol levels in the liver were lower in the inulin-added groups. These effects of inulin were associated with NAS. CONCLUSIONS: Inulin prevented the development of NAFLD, possibly by affecting the expression of genes involved in the pathogenesis of NAFLD in the liver via endocannabinoids. The results of this study show that inulin may be a promising molecule in the treatment/prevention of NAFLD.

Effects of ß-glucan and inulin consumption on postprandial appetite, energy intake and food consumption in healthy females: A randomized controlled trial.

BACKGROUND: To date, several researchers have investigated the association between dietary fibre consumption and satiety. However, there is no study that includes both inulin and ß-glucan to compare energy intake (EI) and satiety ratings. AIM: The current study investigated the effects of two dietary fibres, ß-glucan and inulin, on satiety and food intake. METHODS: The study was carried out among 24 woman over 18 years of age. The dietary fibres ß-glucan (6 g/day) or inulin (6 g/day) were consumed by participants for five weeks. On the first and fifth week visits, the participants consumed a standard breakfast followed by an ad libitum test meal. Appetite was assessed using visual analogue scales (VAS) before and after breakfast. EI was measured at the test meal using plate waste. RESULTS: Both dietary fibres significantly reduced the VAS scores of hunger, prospective food consumption and desire to eat, and increased satiety compared with the control group. However, the area under curve data for the VAS scores did not exhibit a significant difference. Significant reductions in EI and anthropometric values between the first and fifth week measures were observed in both dietary fibre groups. Statistically significant changes occurred in the body weight [-1.25 (1.27) kg], body mass index [-0.41 (0.42) kg/m2], waist circumference [-1.25 (1.04) cm] and waist/hip ratio [-0.01(0.01)] in the ß-glucan group, whereas a statistically significant change occurred in body fat percentage in the inulin group [-2.16% (7.49)]. CONCLUSIONS: Overall, these findings demonstrate that the participants consuming ß-glucan over the course of the five weeks had less EI, felt less hunger and had more satiety.

The impact of phenylketonuria on PKU patients' quality of life: Using of the phenylketonuria-quality of life (PKU-QOL) questionnaires.

BACKGROUND & AIMS: Phenylketonuria (PKU) has a very high prevalence throughout the world. Nowadays, number of studies about impact of this metabolic disease on patients increasing. The aim of our study is to examine PKU patients' quality of life according to PKU-QOL questionnaires. METHODS: Patients (n = 63) diagnosed with PKU were included this study; child (9-11 years (n = 20)), adolescent (12-15 years (n = 22)) and adult (18-35 years (n = 21)). PKU-QOL questionnaires (include 4 modules) developed for PKU patients were used. In accordance with purpose, data were analysed by nonparametric tests (Kruskal Wallis One-Way Analysis of Variance Test and Mann-Whitney U Test), according to results of normality tests. RESULTS: Most of the individuals were female (65,1%) and mean age was 15,7 ± 6,4 years. Symptoms; there were statistically significant differences in all domains excluding tiredness. Especially, median score of slow thinking was very frequent symptom in children as 100,0. PKU in general; there were found that median scores were higher in children. Phe-free amino acid supplement administration: as the age increased, scores were lower. Dietary protein restriction: Overall difficulty following dietary protein restriction and Food enjoyment were found similar in groups (p > 0,05). CONCLUSIONS: It was concluded that PKU affects younger people more negatively.