Effect of Special Low-Protein Foods Consumption in the Dietary Pattern and Biochemical Profile of Patients with Inborn Errors of Protein Metabolism: Application of a Database of Special Low-Protein Foods.

In inborn errors of intermediate protein metabolism (IEM), the effect of special low-protein foods (SLPFs) on dietary intake has been scarcely studied. The aim of this study was to compare the nutritional profile of SLPFs with usual foods and to assess whether their intake determines the dietary pattern and affects the plasma biochemical profile in children with IEMs with different protein restrictions. A database with the nutritional composition of 250 SLPFs was created. A total of 59 children with IEMs were included in this cross-sectional observational study. The greatest significant differences in macronutrient composition were observed between dairy, meat, fish, and egg SLPFs and regular foods. After stratifying subjects by SLPFs, the participants with the highest intake (>32%) had a higher total energy intake and lower intake of natural protein than those in the lowest tertile (<24%) (p < 0.05). However, when stratifying subjects by dairy SLPF intake, children in the highest tertile (>5%) showed a higher intake of sugars, total and saturated fats, and higher plasma levels of total and low-density lipoprotein cholesterol than those in the first tertile (<1%) (p < 0.05). The variability in the nutritional composition of SLPFs highlights the need for up-to-date databases which would greatly assist in optimizing individualized recommendations for children with IEMs and protein restrictions.

Efficacy of Crohn's disease exclusion diet in treatment -naïve children and children progressed on biological therapy: a retrospective chart review.

BACKGROUND: Recent trials suggested that the Crohn's disease (CD) exclusion diet (CDED) plus partial enteral nutrition (PEN) is a safe and effective strategy in remission induction of paediatric-onset CD. However, real-world evidence regarding the safety and efficacy of the CDED plus PEN approach is still lacking. The present case-series study reported our experience with the outcomes of CDED plus PEN in the paediatric-onset CD at disease onset and after the loss of response to biologics. METHODS: We conducted a retrospective chart review on children who were treated with CDED plus PEN through the period from July 2019 and December 2020. Clinical and laboratory data were retrieved and compared at baseline, 6, 12, and 24 weeks of treatment. The primary endpoint of the present study was the rate of clinical remission. RESULTS: The present study retrieved the data from 15 patients. Of them, nine patients were treatment naïve at the time of initiation of CDED plus PEN (group A) and the remaining patients relapsed on biologics before treatment. All patients in groups A and B exhibited clinical remission in week six, which was sustained until week 12. At the end of the follow-up, the clinical remission rate was 87% and 60% in groups A and B, respectively. No side effects were observed in both groups. In group A, the faecal calprotectin (FC) and albumin improved at week six, week 12, and week 24 (p < 0.05). The erythrocyte sedimentation rate (ESR) improved significantly at week 12 (p = 0.021) and week 24 (p = 0.027). At the same time, the haemoglobin and iron levels showed significant improvement only at week 24. For group B, only FC showed numerical reductions over time that did not reach the level of statistical significance. CONCLUSION: Treatment with CDED plus PEN was well tolerated and achieved an excellent clinical remission rate in treatment-naive patients. However, the benefit of CDED plus PEN was less in patients who initiated the strategy after losing the response to biologics.

Vitamin C and folate status in hereditary fructose intolerance.

BACKGROUND: Hereditary fructose intolerance (HFI) is a rare inborn error of fructose metabolism caused by the deficiency of aldolase B. Since treatment consists of a fructose-, sucrose- and sorbitol-restrictive diet for life, patients are at risk of presenting vitamin deficiencies. Although there is no published data on the status of these vitamins in HFI patients, supplementation with vitamin C and folic acid is common. Therefore, the aim of this study was to assess vitamin C and folate status and supplementation practices in a nationwide cohort of HFI patients. METHODS: Vitamin C and folic acid dietary intake, supplementation and circulating levels were assessed in 32 HFI patients and 32 age- and sex-matched healthy controls. RESULTS: Most of the HFI participants presented vitamin C (96.7%) and folate (90%) dietary intake below the recommended population reference intake. Up to 69% received vitamin C and 50% folic acid supplementation. Among HFI patients, 15.6% presented vitamin C and 3.1% folate deficiency. The amount of vitamin C supplementation and plasma levels correlated positively (R = 0.443; p = 0.011). Interestingly, a higher percentage of non-supplemented HFI patients were vitamin C deficient when compared to supplemented HFI patients (30% vs. 9.1%; p = 0.01) and to healthy controls (30% vs. 3.1%; p < 0.001). CONCLUSIONS: Our results provide evidence for the first time supporting vitamin C supplementation in HFI. There is great heterogeneity in vitamin supplementation practices and, despite follow-up at specialised centres, vitamin C deficiency is common. Further research is warranted to establish optimal doses of vitamin C and the need for folic acid supplementation in HFI.

Transferrin Isoforms, Old but New Biomarkers in Hereditary Fructose Intolerance.

Hereditary Fructose Intolerance (HFI) is an autosomal recessive inborn error of metabolism characterised by the deficiency of the hepatic enzyme aldolase B. Its treatment consists in adopting a fructose-, sucrose-, and sorbitol (FSS)-restrictive diet for life. Untreated HFI patients present an abnormal transferrin (Tf) glycosylation pattern due to the inhibition of mannose-6-phosphate isomerase by fructose-1-phosphate. Hence, elevated serum carbohydrate-deficient Tf (CDT) may allow the prompt detection of HFI. The CDT values improve when an FSS-restrictive diet is followed; however, previous data on CDT and fructose intake correlation are inconsistent. Therefore, we examined the complete serum sialoTf profile and correlated it with FSS dietary intake and with hepatic parameters in a cohort of paediatric and adult fructosemic patients. To do so, the profiles of serum sialoTf from genetically diagnosed HFI patients on an FSS-restricted diet (n = 37) and their age-, sex- and body mass index-paired controls (n = 32) were analysed by capillary zone electrophoresis. We found that in HFI patients, asialoTf correlated with dietary intake of sucrose (R = 0.575, p < 0.001) and FSS (R = 0.475, p = 0.008), and that pentasialoTf+hexasialoTf negatively correlated with dietary intake of fructose (R = -0.386, p = 0.024) and FSS (R = -0.400, p = 0.019). In addition, the tetrasialoTf/disialoTf ratio truthfully differentiated treated HFI patients from healthy controls, with an area under the ROC curve (AUROC) of 0.97, 92% sensitivity, 94% specificity and 93% accuracy.

[Nutritional education in school-age children through Programa Nutriplato®]. / Educación nutricional en niños en edad escolar a través del Programa Nutriplato®.

INTRODUCTION: Introduction: promoting healthy eating habits among childhood is one of the key aspects to improve medium and long-term health outcomes. Objectives: the main aims are to improve eating habits, promote the Mediterranean diet (MD) and prevent and/or reverse overweight and obesity in children from 3 to 12 years old. Methods: the program has a one-year follow-up and includes three to five visits with registered dietitians, one telephone control and one practical workshop. Anthropometric, body composition and eating habits data are collected, and nutritional education is carried out. A total sample of 1,000 children will be included. Results: until now, 622 participants have been included (51.6 % boys; median age 8.5 years). At the beginning, 32.2 % of participants were overweight or obese and 38.9 % had an adequate MD. Although no differences were found in the assessment of the Kidmed questionnaire regarding sex (p = 0.214) or body mass index (BMI) subgroups (p = 0.181), differences were found regarding age (p = 0.023) and BMI Z-score (p = 0.004), showing slightly lower values in those having and adequate MD. At the moment, 362 participants have made the six-month visit, of which 61.6 % presented an adequate MD, with statistically significant differences compared to the baseline visit (p < 0.0001). Conclusions: preliminary results show the need for nutritional education in children and suggest that Programa Nutriplato® can be effective in improving eating habits.

INTRODUCCIÓN: Introducción: promocionar hábitos de alimentación saludable durante la infancia es uno de los aspectos clave para fomentar un buen estado de salud a medio y largo plazo. Objetivos: los objetivos principales son mejorar los hábitos alimentarios, promocionar la dieta mediterránea (DM) y prevenir y/o revertir el sobrepeso y la obesidad en niños de 3 a 12 años. Métodos: el programa tiene un seguimiento de un año e incluye de tres a cinco visitas con dietistas-nutricionistas, un control telefónico y un taller práctico. Se recogen datos antropométricos, de composición corporal y de hábitos alimentarios, y se realiza educación nutricional. Se incluirán un total de 1.000 niños. Resultados: hasta el momento, se han incluido 622 participantes (51,6 % niños; mediana de edad de 8,5 años). Al inicio, el 32,2 % presentaba sobrepeso u obesidad y el 38,9 % seguía una DM óptima. No se encontraron diferencias en la valoración del cuestionario Kidmed en función del sexo (p = 0,214) ni del subgrupo de índice de masa corporal (IMC) (p = 0,181), pero sí en función de la edad (p = 0,023) y del Z-score del IMC (p = 0,004), mostrando valores ligeramente menores en aquellos que presentaban una DM óptima. Por ahora, 362 participantes han realizado la visita de los seis meses, de los cuales el 61,6 % presentó una DM óptima, con diferencias estadísticamente significativas en comparación con la inicial (p < 0,0001). Conclusiones: los resultados preliminares muestran la necesidad de realizar educación nutricional en los niños y sugieren que el Programa Nutriplato® puede ser efectivo en la mejora de hábitos alimentarios.

Macronutrient and fibre intake of young Spanish children with reference to their in utero growth status: Are they eating a healthy diet?

AIM: To compare macronutrient and fibre intake by pre-school children born with intra-uterine growth restriction (IUGR) or as appropriate for gestational age (AGA) and to compare their intake with paediatric nutritional recommendations for identification of potential areas of modification during early life. METHODS: A parental 3-day dietary record was obtained for children of age 1-6 years, born at Hospital Clinic, Barcelona, Spain (2002-2007) with IUGR (n = 37) or AGA (n = 53). Mean nutrient intake (adjusted for body mass index), nutrient adequacy ratios (NAR) and percentage of energy intake (EI%) were compared. RESULTS: Macronutrient and fibre intake of the two groups did not differ significantly. However, IUGR children showed significantly higher than the recommended levels of protein EI% (18 (95% confidence interval (CI) 16-19)), NAR for saturated fatty acids (SFAs) (1.2 (95% CI 1.1-1.5)) and NAR for carbohydrate (1.4 (95% CI 1.2-1.6)) and significantly lower than the recommended levels of NAR for unsaturated fatty acids (UFAs) (0.6 (95% CI 0.5-0.8)) and for fibre (0.6 (95% CI 0.5-0.8)). Likewise, children born with AGA showed similar pattern compared to the recommended levels for protein EI% (17 (95% CI 16-18)), NAR for SFAs (1.3 (95% CI 1.2-1.4)), NAR for UFAs (0.6 (95% CI 0.5-0.7)) and NAR for fibre (0.8 (95% CI 0.7-0.9)). CONCLUSION: Spanish pre-school children consume proteins and SFAs in abundance and UFAs and fibre in moderation. Reinforcement of healthy eating is recommended for long-term health benefits, especially for at-risk children born with IUGR, whose consumption of carbohydrate is additionally greater than that recommended.

Efficacy of the Ketogenic Diet for the Treatment of Refractory Childhood Epilepsy: Cerebrospinal Fluid Neurotransmitters and Amino Acid Levels.

OBJECTIVE: The mechanisms of the ketogenic diet remain unclear, but several predictors of response have been proposed. We aimed is to study the relationship between the etiology of epilepsy, cerebrospinal fluid neurotransmitters, pterins, and amino acids, and response to a ketogenic diet. METHODS: We studied 60 patients who began classic ketogenic diet treatment for refractory epilepsy. In 24 of 60 individuals, we analyzed cerebrospinal fluid neurotransmitters, pterins, and amino acids in baseline conditions. Mean age at epilepsy onset was 24 months, 83.3% were focal epilepsies, and in 51.7% the etiology of the epilepsy was unknown. RESULTS: Six months after initiating the ketogenic diet, it was effective (greater than a 50% reduction in seizure frequency) in 31.6% of patients. We did not find a link between rate of efficacy for the ketogenic diet and etiologies of epilepsy, nor did we find a link between the rate of efficacy for the ketogenic diet and cerebrospinal fluid pterins and biogenic amines concentrations. However, we found statistically significant differences for lysine and arginine values in the cerebrospinal fluid between ketogenic diet responders and nonresponders, but not for the other amino acids analyzed. SIGNIFICANCE: The values of some amino acids were significantly different in relationship with the ketogenic diet efficacy; however, the epilepsy etiology and the cerebrospinal fluid biogenic amine and pterin values were not.