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BACKGROUND/OBJECTIVES: Protein substitutes (PS) are an essential component in the dietary management of phenylketonuria (PKU). PS are available as phenylalanine-free amino-acid mixtures (AAM), glycomacropeptide-based PS (GMP) and large neutral amino acids (LNAA). There is a lack of information regarding their availability in different countries and comparison of their nutritional composition is limited. The objectives of this study were to identify the number of PS available in different European countries and Turkey and to compare their nutritional composition. SUBJECTS/METHODS: Members of the European Nutritionist Expert Panel on PKU (ENEP) (Portugal, Spain, Belgium, Italy, Germany, Netherlands, United Kingdom, Denmark and Turkey) provided data on PS available in each country. The nutritional composition of PS available in Portugal was analyzed. RESULTS: The number of PS available in each country varied from 30 (Turkey) to 105 (Germany), with a median of 64. GMP was available only in Portugal, whereas LNAA was an option in Portugal, Italy, Turkey and Denmark. Some PS were designed for weaning. Many PS did not contain added fat and fiber. GMP contained the highest carbohydrate (CHO) and energy content as well as higher LNAA content compared with AAM. Only one AAM contained added fructo-oligosaccharides and galacto-oligosaccharides. AAM designed for the first year of life had the highest CHO, fat and LNAA contribution. Liquid AAM had lower CHO and fat contents compared with powdered AAM, but contained higher LNAA. CONCLUSIONS: There was widely dissimilar numbers of PS available in different countries. Nutritional composition of different PS was variable and should be considered before prescription. European Journal of Clinical Nutrition (2016) 70, 785-789; doi: 10.1038/ejcn.2016.54; published online 27 April 2016, INTRODUCTION Nutritional treatment of patients with phenylketonuria (PKU) involves the restriction of phenylalanine (Phe), found in natural protein-containing foods, in combination with a protein replacement/substitute without Phe. Protein substitutes (PS) [...]

Background: Only limited data are available on the blood phenylalanine (Phe) concentrations achieved in European patients with phenylketonuria (PKU) on a low-Phe diet. Objective: A survey was conducted to compare blood Phe control achieved in diet-treated patients with PKU of different age groups in 10 European centres. Methods: Centres experienced in the management of PKU from Belgium, Denmark, Germany, Italy, The Netherlands, Norway, Poland, Spain, Turkey and the United Kingdom provided retrospective audit data of all patients with PKU treated by diet over a 1-year period. Standard questions were used to collect median data on blood Phe concentrations, percentage of blood Phe concentrations below upper target reference ranges and frequency of blood Phe sampling. Results: Data from 1921 patients on dietary management were included. Blood Phe concentrations were well controlled and comparable across centres in the early years of life. The percentages of blood Phe concentrations meeting each centre's local and national target ranges were 88% in children aged up to 1 year, 74% for 1-10 years, 89% for 11-16 years and 65% for adults (>16 years). The frequency of home blood sampling, compared with local and national recommendations for monitoring Phe concentrations, appeared to decline with age (from approximately 100% in infancy to 83% in teenagers and 55% in adults). Conclusions: Although blood Phe control generally deteriorated with age, some improvement was observed in adolescent years across the 10 European centres. The blood Phe control achieved seemed comparable in many of the European centres irrespective of different dietary treatments or national policies. European Journal of Clinical Nutrition (2011) 65, 275-278; doi: 10.1038/ejcn.2010.258; published online 1 December 2010 Keywords: phenylketonuria; blood phenylalanine; diet; nutrition; compliance, Introduction Phenylketonuria (PKU) arises from mutations of the gene coding for the enzyme phenylalanine (Phe) hydroxylase (PAH), resulting in its deficiency. PAH is the major enzyme responsible for the hydroxylation [...]

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., (© 2022. The Author(s).)

Background/Objectives: Low phenylalanine (PHE), glycomacropeptide-based protein substitute (GMP) is an alternative to traditional L-amino acid supplements (AA) used in the dietary management of phenylketonuria (PKU). In a retrospective, longitudinal study, we report the nutritional status of PKU patients taking AA and GMP. Subjects/Methods: Eleven PKU patients aged 27[plus or minus]10 years (1 HPA, 4 mild and 6 classical PKU) on dietary treatment were evaluated (anthropometry, body composition, blood pressure measurements, biochemical markers including vitamin, mineral, lipids, carbohydrates and protein status/metabolism, and nutritional intake assessment) at two different annual reviews. The mean time taking AA was 13[plus or minus]5 months and GMP 13[plus or minus]7 months. Blood phenylalanine (PHE) and tyrosine (TYR) were analysed before and after GMP introduction. Results: Both GMP and AA protein substitutes provided similar protein equivalent intake (0.85 vs 0.75 g/kg/day, P=0.182). In the GMP group, it contributed 57% (27-100%) of the protein substitute intake (with AA delivering the rest of protein substitute intake), providing an additional 34[plus or minus]12 mg/day PHE. Nutritional intake, anthropometry and body composition measurements were similar in both the groups. Median blood PHE did not change (P=0.594), although values within target range improved (36 vs 46%), but this was not statistically significant. Mean blood TYR increased (52.0[plus or minus]19.2 vs 63.2[plus or minus]25.6 [mu]mol/l, P=0.033), and all biochemical markers remained stable, except for a lower A1C haemoglobin (P=0.011). Conclusions: Partial GMP contribution to total protein substitute intake did not affect nutritional status in patients with PKU. Blood PHE control was not adversely affected. The increased blood TYR after GMP introduction necessitates further study., Author(s): A Pinto [sup.1] , M F Almeida [sup.1] [sup.2] , P C Ramos [sup.1] , S Rocha [sup.3] , A Guimas [sup.3] , R Ribeiro [sup.3] , E Martins [...]

Background/Objectives: Few studies have examined the factors explaining the variability in fat and carbohydrate intake during infancy. We aimed to describe infants' fat and carbohydrate intake and analyse the associations with infant and maternal characteristics and feeding practices. Subjects/Methods: This study included 1275 infants aged 8 months from the French EDEN mother-child cohort. Carbohydrate intake, fat intake, added fat (vegetable oils and animal fats) and added sugar (honey, white sugar, brown sugar, jam and sweetened beverages) consumption were calculated at 8 and 12 months. Associations between these variables and infant and maternal characteristics as well as maternal dietary patterns during pregnancy, breast-feeding duration and age at complementary feeding introduction were analysed using multivariable linear and logistic regressions. Results: Less than 5% of non-breast-fed infants reached the recommendation of consuming at least 40% of total energy from fat, whereas more than 95% of them reached 45% of energy from carbohydrates. Overall, infant and maternal characteristics and maternal diet during pregnancy were marginally associated with both carbohydrate/added sugar and fat/added fat intake. Nevertheless, age at complementary feeding introduction was associated with all outcomes. Conclusions: Our results suggest that only a small proportion of non-breast-fed infants at 8 and 12 months reached the recommendations for fat intake, whereas a majority of them reached the recommendations for carbohydrate intake. As subgroups of infants with a higher risk of inadequate diet were not identified, the present results call for an improved dissemination of information regarding infant-specific dietary fat needs in the entire population., Author(s): W L Yuan [sup.1] [sup.2] , S Nicklaus [sup.1] , S Lioret [sup.2] [sup.3] , C Lange [sup.1] , A Forhan [sup.2] [sup.3] , B Heude [sup.2] [sup.3] , [...]

BACKGROUND/OBJECTIVES: Malnutrition occurs frequently in hospitalized children. We aimed to assess whether a computerized system could lead to improved clinical practices in malnourished children. SUBJECTS/METHODS: Healthcare workers (242) from six departments in a pediatric university hospital participated in a cluster randomized trial, studying 1457 malnourished children hospitalized from September 2009 to August 2011. Following a baseline observational pre-intervention period, all departments were randomized into either intervention or control arms. A computerized malnutrition-screening system was implemented in the intervention group to automatically trigger a dietetic referral in real time. Furthermore, the nutrition support team conducted an awareness campaign with healthcare workers and a leadership-based strategy to reinforce the message during the entire study period. Adherence to practice guidelines (daily weights, investigation of etiology for malnutrition, management by a dietitian and application of refeeding protocols) was compared between pre-and postintervention periods in both the intervention and trial arms. RESULTS: When compared with the pre-intervention period, the clinical practices were significantly improved within the intervention arm for every outcome (P < 0.01), whereas remained unchanged in the control arm. In addition, during the post-intervention period, malnutrition etiology investigation by physicians (adjusted odds ratio (OR) of 4.4, 95% confidence interval (CI) 1.7-11.8, P = 0.003) and management by a dietitian (OR 2.7, 95% CI 1.0-6.9, P = 0.046) occurred more frequently in the intervention clusters. CONCLUSIONS: Implementation of an electronic system to detect malnutrition in real time was associated with a rapid improvement in clinical practices for better care of hospitalized children. European Journal of Clinical Nutrition (2015) 69, 769-775; doi:10.1038/ejcn.2014.288; published online 4 February 2015, INTRODUCTION Malnutrition is frequent among hospitalized children, reaching rates of up to 20% in Europe and North America. (1-5) By altering metabolism and organ function, malnutrition increases complications and the [...]

BACKGROUND/OBJECTIVE: The aim of the study was to compare the prevalence of undernutrition in children on presentation to hospital and on discharge. METHODS: On a screening week, 141 children aged from birth to 17 years who were hospitalised for ≥72 h were reviewed on presentation and discharge or after 3 months (if still in hospital) by auditing hospital records. Weight for age standard deviation (s.d. < -2) was used to define undernutrition on admission and discharge. The number of children referred for dietetic advice was recorded. RESULTS: The prevalence of undernutrition on admission was 27% (14% moderate (s.d.: -2to -3) and 13% severe (s.d.: [greater than or equal to] -3)) according to weight s.d. and increased to 32% by discharge (11% moderate; 21% severe). The most nutritionally vulnerable children, with a prevalence of undernutrition from 33 to 53% on admission, were aged less than 2 years, inpatients for >1 month and those with multiple medical problems. In all, 74% (n = 104) of cases were referred to Dietetics, including 73% (n = 79) of those without evidence of undernutrition. CONCLUSIONS: Undernutrition is a major problem in children during hospitalisation. The risk of nutritional depletion needs to be identified at the time of admission, especially for children under 2 years and those with multiple medical problems, in order to initiate appropriate nutritional intervention. European Journal of Clinical Nutrition (2014) 68, 730-735; doi:10.1038/ejcn.2014.21; published online 12 March 2014, INTRODUCTION Nutritional support is an essential aspect of the clinical management of children admitted to hospital. (1) In developed countries, childhood malnutrition is mostly secondary to chronic diseases and may [...]

OBJECTIVE: To investigate micronutrient supply in phenylketonuria (PKU) patients on a relaxed diet. SUBJECTS/METHODS: Sixty-seven patients (6-45 years) with a phenylalanine tolerance ≥600 mg/day were included in the study. From a 3-day diet record, protein supply as well as consumption of essential amino acids and several micronutrients were assessed and compared with the current recommendations and data for the healthy population. RESULTS: Protein supply and consumption of all essential amino acids were sufficient in all patients. Supply of micronutrients depended on dietary regime. Patients with a total protein supply of 120% or more of the recommended amount and at least 0.5 g protein per kg body weight from amino-acid mixture (AAM) were sufficiently supplied with all investigated micronutrients. All patients without AAM supplement showed severe micronutrient deficiencies in their diet records. CONCLUSION: PKU patients under a relaxed diet are at risk of an insufficient nutrient supply, if they have first no substitution with AAM, second a protein supply less than 0.5 g per kg body weight from AAM or third a total protein supply less than 120% of the recommendations. Therefore, close monitoring, specific dietary counseling and potential supplementation is mandatory to prevent micronutrient deficiencies in PKU patients. European Journal of Clinical Nutrition (2014) 68, 119-124; doi: 10.1038/ejcn.2013.218; published online 20 November 2013 Keywords: Phenylketonuria; relaxed diet; micronutrient deficiencies; micronutrients, INTRODUCTION Phenylketonuria (PKU;OMIN 261600) is one of the most common inborn metabolic disorders, with an incidence varying between 1:3000 and 1:30000 across Europe. (1) It is caused by a deficient [...]

Background/Objectives: Phenylketonuria (PKU) and several other inherited metabolic diseases (IMD) require a lifelong low-protein diet (LPD), otherwise they lead to many health complications. LPDs, however, carry a significant economic burden for patients and their families. The objective of this study was to explore the costs of low-protein foods (LPFs) necessary for LPD as well as dietary patterns and compliance towards an LPD. Subjects/Methods: A detailed questionnaire was created in cooperation with National Association of PKU and other IMD (NSPKU), and consequently sent to all NSPKU members treated with an LPD (n=303). A total of 184 respondents from the Czech Republic were included in the study (174 had PKU, 10 had other IMD). Results: The average daily consumption of LPF was equal to 411.7 g (PKU) and 345.6 g (other IMD), which corresponds to energy value of 5558 kJ and 4438 kJ, respectively, per patient per day. Patients mostly consumed low-protein flour ([approx equal ro]30% of energy intake), pasta ([approx equal ro]18%), basic pastry ([approx equal ro]15%) and sweets ([approx equal ro]10%). The average monthly costs of LPDs were equal to [euro]130 (PKU) and [euro]129 (other IMD) per patient per month. The compliance with LPD was decreasing with increasing age (P [less than] 0.0001). Conclusions: This is the largest study examining costs and dietary patterns of LPDs in patients with PKU and the first study of this kind in other IMD patients requiring an LPD. The study clearly showed that an LPD carries a very high economic burden for families, which may lead to less LPD compliance and potential severe health consequences. European Journal of Clinical Nutrition (2018) 72, 87-92; doi: 10.1038/ejcn.2017.102; published online 28 June 2017, Author(s): T Ml[c caron]och [1]; R Puda [2]; P Je[s caron]ina [3]; M Lhotáková [2]; [S caron] [S caron]t[earon]rbová [2]; T Dole[z caron]al [1] Introduction Inherited metabolic diseases represent a [...]

Background/Objectives: The treatment of phenylketonuria (PKU) requires consistent restriction of protein intake from natural sources. Therefore, protein from all foods has to be accounted for, even the small amounts in fruits and vegetables. We studied whether free consumption of fruits and vegetables containing less than 75 mg phenylalanine (phe) per 100 g affects metabolic control in children with PKU. Subjects/Methods: Fourteen children (2-10 years) were included in a cross-over study, with a two-week period of conventional treatment (accounting for protein from fruits and vegetables) and a two-week period with free fruit and vegetable consumption. The instruction to follow liberal fruit and vegetable consumption in the first or second study period was randomized. Detailed daily dietary records were obtained throughout the study. Phe and nutrient content was calculated. Dried-blood phe concentration was monitored daily. Results: Although total phe intake increased by an average of 58 mg per day (P = 0.037) during the 2 weeks of free fruit and vegetable consumption, dried-blood phe concentrations were unchanged. Total intake of fruits and vegetables did not increase, but patients instead used the higher phe tolerance to consume more of other foods, which were calculated and accounted for. Conclusion: Free consumption of fruits and vegetables does not impair metabolic control in PKU patients over a 2-week period. European Journal of Clinical Nutrition (2012) 66, 633-638; doi:10.1038/ejcn.2011.205; published online 8 February 2012 Keywords: phenylketonuria;phenylalanine;fruits;vegetables;diet, Introduction Phenylketonuria (PKU) is one of the most common inborn metabolic diseases, with an incidence varying between 1:3000 and 1:30000 across Europe (Loeber, 2007). It is caused by deficient activity [...]

Objective: To investigate the in vivo oxidation of [sup.13]C18:2n-6 and its conversion into longer-chain polyunsaturates (LCPs) in healthy subjects. Design: Blood samples were collected from six subjects before (fasted) and 7, 11 (non-fasted), 24, 48, 72, 168 and 336 h (fasted) after ingestion of a single bolus of 45 mg uniformly labeled [sup.13]C18:2n-6 dissolved in 8 g olive oil. In three subjects, breath was also sampled and C[O.sub.2] production measured every hour during the first 12h. Subjects consumed their habitual diets. Plasma [sup.13]C-enrichments were measured by GC-G-IRMS and fatty acid compositions by GC/FID. Setting: Maastricht University, Department of Human Biology. Subjects: Three men and three women, recruited by local advertisement. Results: The tracer/tracee ratio (TTR) of C18:2n-6 in plasma total lipids was already increased 5 h after tracer intake. The mean peak amount ([+ or -] s.e.m) of [sup.13]C18:2n-6 (3.4 [+ or -] 0.8 mg; 7.6% of dose) was found after about 17 h, [sup.13]C18:3n-6 (0.018 [+ or -] 0.008 mg; 0.04% of dose) after 7-48 h, and [sup.13]C20:3n-6 (0.028 [+ or -] 0.011 mg; 0.06% of dose) after 48-336 h. Time to peak TTRs of C20:4n-6 varied between subjects and were on average 0.022 [+ or -] 0.006 mg (0.05% of dose). The proportion of [sup.13]C18:2n-6 recovered in breath after 12h ranged between 16.8 and 25.1%. Conclusions: These findings suggest that a single bolus of 45 mg U-[sup.13]C18:2n-6 can be used to study the oxidation of [sup.13]C18:2n-6. However, because of the low TTRs for C20:4n-6, a higher dose is recommended for studying the conversion of [sup.13]C18:2n-6 into LCPs. In addition, since only about 35% of the tracer was found in plasma total lipids and as [sup.13]C[O.sub.2] in breath, it might be necessary to study other accessible lipid fractions as well to study the overall conversion of linoleic acid. Descriptors: linoleic acid; metabolism; desaturation; elongation; arachidonic acid; humans; oxidation; stable isotope; GGGIRMS, Introduction Arachidonic acid (C20:4n-6) is a major precursor of eicosanoids, which have important physiological and pathological functions in humans such as in inflammatory processes, immunological reactions and platelet aggregation. Arachidonic [...]

Objective: To assess prospectively the consumption of fruit and vegetables and its&apos; correlation to the parental consumption in boys and girls taking part in an atherosclerosis prevention study (Special Turku Coronary Risk Factor Intervention Project for Children (STRIP) study). Hypothesis: Nutrition counselling focused on cardiovascular health effects vegetable and fruit consumption. Design: A prospective, randomised, clinical trial. Subjects: Children were recruited to the STRIP study between 1989 and 1992. At the age of 7 months, children were randomised to the intervention (n=540) or the control group (n=522) and were followed up until the age of 11 years. Intervention: Families in the intervention group have, since randomisation, received biannual individualised dietary counselling aimed at reduction of cardiovascular risk factors, especially saturated fat intake. Food records were used to assess fruit and vegetable consumption of children and parents. Results: The percentage of total energy intake provided by fruit and vegetables decreased when the children grew older (P for age [less than] 0.001). The 1- to 10-year-old intervention boys consumed more vegetables (mean difference 3.18 g/day; CI 1.48-4.86; P [less than] 0.001) and fruit (mean difference 10.1 g/day; CI 5.28-14.94; P [less than] 0.001) than did the control. Mother&apos;s consumption correlated with the consumption of their daughters and sons, whereas father&apos;s consumption correlated only with the consumption of their sons. Conclusions: Finnish children taking part in the atherosclerosis prevention study had a remarkably low fruit and vegetable consumption, which furthermore decreased with age. The children&apos;s consumption correlated with the parental consumption, except between boys and mothers. A slight intervention effect was present only among boys. European Journal of Clinical Nutrition (2006) 60, 172-180. doi: 10.1038/sj.ejcn.1602283; published online 12 October 2005 Keywords: children, fruit, vegetables, cardiovascular disease, STRIP, Author(s): S Talvia [1]; L Rasanen [2]; H Lagstrom [1]; K Pahkala [1]; J Viikari [3]; T Ronnemaa [3]; M Arffman [1]; O Simell [4] Introduction It has been observed [...]