There is a lack of evidence on the impact on body composition of high protein intake and types of protein substitutes in PKU patients—particularly in adolescents, who are more inclined to dietary transgressions. In this observational, cross-sectional study, PKU patients were observed during prepubertal age (p) or after the pubertal spurt (P), assessing body composition and bone quality and correlating these parameters with dietary compliance and types of protein substitutes. Anthropometric and dietary data were evaluated together with bioelectrical impedance analysis (BIA), quantitative ultrasound (QUS) and branched-chain amino acids (BCAAs). A total of 36 patients (16 males, 17 prepubertal and 19 post-pubertal; mean ± SD age 11.4 ± 3.9 years) were included. A higher BMI was observed in adolescents (p-value: 0.018). The BIA revealed a significant increase in total body water (TBW) and muscle mass (MM) in P subjects either compliant (p-value: 0.001) or non-compliant with the diet (p-value: 0.001). MM content correlated with increased Phe intake (r = 0.63; p < 0.001). In the subgroup of five patients taking L-AAs and glycomacropeptides (GMPs), BCAA values tended to be lower than those taking only L-AA mixtures, with a significant trend for valine. Maintenance of body composition parameters within the normal range—for both fat and muscle mass—and levels of BCAAs can be helpful in reducing the risk of becoming overweight in adulthood. Further studies are needed to confirm these findings.
Background: Vaccines for COVID-19 have had a significant impact on the spread of COVID-19 infection, reducing the incidence and mortality of the infection in several countries. However, hesitancy toward this vaccine is a global health issue for the general population The Vaccine acceptance rate among patients affected with inherited metabolic disorders (IMD), as well as safety profile, has not been described. Methods: We conducted a cross-sectional study, based on a telephone survey, investigating the COVID-19 vaccination rate, the incidence and type of adverse effects (AEs), the reasons for vaccine refusal and the effects on the underlying disease in a cohort of IMD patients followed at a single center and invited directly to vaccination by specialistic team. Results: Seventy-four patients were included in the study, the median age was 23.4 years (min 12.1–max 61.7), 47% (n = 85) were females and 61% (107) were affected from impaired metabolism of phenylalanine. By October 2021, 94% (n = 163) of them had received at least one dose of the vaccine, which was, in 98% of cases, mRNA-based vaccine, given at the referral hospital in 65% of cases. Overall, 72% of patients with IMD reported AE to the vaccine: 60% after the first dose, 81% after the second. The highest rate of adverse events at the first dose was reported in patients with amino acids related disorders other than impaired phenylalanine metabolism (PKU/HPA) (88%). For the second dose, the PKU/HPA group reported the highest rate of AEs (89% of cases). There was no effect on the underlying disease or acute decompensation after the vaccine. Eleven patients (6%) were not vaccinated because they considered it dangerous. Conclusion: Among individuals with IMD, the vaccination rate was high, the incidence and severity of AEs were comparable to those in the general population with no effects on the disease. Direct contact with the specialist medical team, has proven to reassure patients and effectively contrast hesitancy.
Studies on Hyperphenylalaninemia (HPA) patients are scarce and primarily focused on neurocognitive outcomes compared to PKU patients. In this study, we characterized the food habits and lifestyle of HPA patients compared with healthy peers. We performed a cross-sectional survey of a cohort of 30 patients (13 males, median age/range: 7.9; 2.2–16.7 years) and 28 controls (8 males, median age/range: 7.9; 2.1–16.7 years). Anthropometric parameters, food and nutrient intakes, and level of physical activity were assessed. Food neophobia, eating disorders, and body image perception was investigated by specific tests. Patients showed greater selectivity in the choice of foods than controls, preferring products with lower protein content (p-value: 0.03) and avoiding associating multiple protein and carbohydrate sources. A comparable tendency to distrust new foods emerged without elements suggestive of eating disorders. Patients had higher image dissatisfaction than peers (p-value: 0.01). This group of patients manifested more selective eating habits and worse body image acceptance. A regular evaluation of these aspects in these patients may result in a more effective follow-up of this disorder. More studies are needed to confirm these findings.
scite is a Brooklyn-based organization that helps researchers better discover and understand research articles through Smart Citations–citations that display the context of the citation and describe whether the article provides supporting or contrasting evidence. scite is used by students and researchers from around the world and is funded in part by the National Science Foundation and the National Institute on Drug Abuse of the National Institutes of Health.
hi@scite.ai
10624 S. Eastern Ave., Ste. A-614
Henderson, NV 89052, USA
Copyright © 2024 scite LLC. All rights reserved.
Made with 💙 for researchers
Part of the Research Solutions Family.