Browsing by Author "MacDonald, A"
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- Body Composition Evaluation and Clinical Markers of Cardiometabolic Risk in Patients with PhenylketonuriaPublication . Luengo-Pérez, LM; Fernández-Bueso, M; Ambrojo, A; Guijarro, M; Ferreira, AC; Pereira-da-Silva, L; Moreira-Rosário, A; Faria, A; Calhau, C; Daly, A; MacDonald, A; Rocha, JCCardiovascular diseases are the main cause of mortality worldwide. Patients with phenylketonuria (PKU) may be at increased cardiovascular risk. This review provides an overview of clinical and metabolic cardiovascular risk factors, explores the connections between body composition (including fat mass and ectopic fat) and cardiovascular risk, and examines various methods for evaluating body composition. It particularly focuses on nutritional ultrasound, given its emerging availability and practical utility in clinical settings. Possible causes of increased cardiometabolic risk in PKU are also explored, including an increased intake of carbohydrates, chronic exposure to amino acids, and characteristics of microbiota. It is important to evaluate cardiovascular risk factors and body composition in patients with PKU. We suggest systematic monitoring of body composition to develop nutritional management and hydration strategies to optimize performance within the limits of nutritional therapy.
- Development of a Practical Dietitian Road Map for the Nutritional Management of Phenylketonuria (PKU) Patients on PegvaliasePublication . César Rocha, J; Bausell, H; Bélanger-Quintana, A; Bernstein, L; Gökmen-Özel, H; Jung, A; MacDonald, A; Rohr, F; Dam, E; Heddrich-Ellerbrok, MBackground: The metabolic dietitian/nutritionist (hereafter 'dietitian') plays an essential role in the nutritional management of patients with phenylketonuria (PKU), including those on pegvaliase. Currently, more educational support and clinical experience is needed to ensure that dietitians are prepared to provide optimal nutritional management and counselling of pegvaliase-treated patients. Methods: Via a face-to-face data-review meeting, followed by a virtual consolidation meeting, a group of expert dietitians and one paediatrician discussed and developed a series of recommendations on the nutritional evaluation and management of patients receiving pegvaliase. The consensus group consisted of 10 PKU experts: six dietitians and one paediatrician from Europe and three dietitians from the US. One European and three US dietitians had experience with pegvaliase-treated patients. Results: The consensus group recommended that a physician, dietitian and nurse are part of the pegvaliase treatment team. Additionally, a psychologist/counsellor should be included if available. Practical proposals for the nutritional evaluation of pegvaliase-treated patients at baseline, during the induction and titration phases and for long-term maintenance were developed. The consensus group suggested assessment of blood Phe at least monthly or every 2 weeks in the event of low blood Phe (i.e., blood Phe <30 μmol/L). It may be appropriate to increase blood Phe monitoring when adjusting protein intake and/or pegvaliase dose. It was recommended that natural protein intake is increased by 10-20 g increments if blood Phe concentrations decrease to <240 μmol/L in patients who are not meeting the dietary reference intake for natural protein of 0.8 g/kg. It was proposed that with pegvaliase treatment blood Phe levels could be maintained <240 μmol/L but more evidence on the safety of achieving physiological blood Phe levels is necessary before any recommendation on the lower blood Phe target can be given. Finally, both patients and dietitians should have access to educational resources to optimally support patients receiving pegvaliase. Conclusion: This practical road map aims to provide initial recommendations for dietitians monitoring patients with PKU prescribed pegvaliase. Given that practical experience with pegvaliase is still limited, nutritional recommendations will require regular updating once more evidence is available and clinical experience evolves.
- Early Feeding Practices in Infants with Phenylketonuria Across EuropePublication . Pinto, A; Adams, S; Ahring, K; Allen, H; Almeida, MF; Garcia-Arenas, D; Arslan, N; Assoun, M; Atik Altınok, Y; Barrio-Carreras, D; Belanger Quintana, A; Bernabei, SM; Bontemps, C; Boyle, F; Bruni, G; Bueno-Delgado, M; Caine, G; Carvalho, R; Chrobot, A; Chyż, K; Cochrane, B; Correia, C; Corthouts, K; Daly, A; De Leo, S; Desloovere, A; De Meyer, A; De Theux, A; Didycz, B; Dijsselhof, ME; Dokoupil, K; Drabik, J; Dunlop, C; Eberle-Pelloth, W; Eftring, K; Ekengren, J; Errekalde, I; Evans, S; Foucart, A; Fokkema, L; François, L; French, M; Forssell, E; Gingell, C; Gonçalves, C; Gökmen Özel, H; Grimsley, A; Gugelmo, G; Gyüre, E; Heller, C; Hensler, R; Jardim, I; Joost, C; Jörg-Streller, M; Jouault, C; Jung, A; Kanthe, M; Koç, N; Kok, I L; Kozanoğlu, T; Kumru, B; Lang, F; Lang, K; Liegeois, I; Liguori, A; Lilje, R; Ļubina, O; Manta-Vogli, P; Mayr, D; Meneses, C; Newby, C; Meyer, U; Mexia, S; Nicol, C; Och, U; Olivas, SM; Pedrón-Giner, C; Pereira, R; Plutowska-Hoffmann, K; Purves, J; Re Dionigi, A; Reinson, K; Robert, M; Robertson, L; Rocha, JC; Rohde, C; Rosenbaum-Fabian, S; Rossi, A; Ruiz, M; Saligova, J; Gutiérrez-Sánchez, A; Schlune, A; Schulpis, K; Serrano-Nieto, J; Skarpalezou, A; Skeath, R; Slabbert, A; Straczek, K; Giżewska, M; Terry, A; Thom, R; Tooke, A; Tuokkola, J; van Dam, E; van den Hurk, TM; van der Ploeg, EC; Vande Kerckhove, K; Van Driessche, M; van Wegberg, AJ; van Wyk, K; Vasconcelos, C; Velez García, V; Wildgoose, J; Winkler, T; Żółkowska, J; Zuvadelli, J; MacDonald, AIn infants with phenylketonuria (PKU), dietary management is based on lowering and titrating phenylalanine (Phe) intake from breast milk or standard infant formula in combination with a Phe-free infant formula in order to maintain blood Phe levels within target range. Professionals use different methods to feed infants with PKU and our survey aimed to document practices across Europe.
- Natural Protein Intake in Children with Phenylketonuria: Prescription vs. Actual IntakesPublication . Pinto, A; Daly, A; César Rocha, J; Ashmore, C; Evans, S; Ilgaz, F; Hickson, M; MacDonald, AIn phenylketonuria (PKU), an important component of the UK dietary management system is a 50 mg phenylalanine (Phe)/1 g protein exchange system used to allocate the Phe/natural protein intakes according to individual patient tolerance. Any foods containing protein ≤ 0.5 g/100 g or fruits/vegetables containing Phe ≤ 75 mg/100 g are allowed without measurement or limit. In children with PKU, we aimed to assess the difference between the prescribed natural protein intake and their actual consumed intake, and to calculate the natural protein/Phe intake from foods given without measurement or restriction. Over a 6-month duration, three one-day diet diaries were collected every month by caregivers of children with PKU at the beginning of a follow-up study. Dietary intakes of Phe, as well as natural and total protein intakes, were calculated using Nutritics® (v5.09). Weekly blood Phe spots were collected by caregivers. The target blood Phe level was ≤360 μmol/L for ages up to 12 years and ≤600 μmol/L for ages ≥12 years. Sixteen early treated children (69% females) with PKU were recruited. The median age was 11 years (range: 9-13), and most had classical PKU (n = 14/16). A median of 18 (range 12-18) one-day diaries and 22 blood spots were analysed for each subject over 6 months. The median prescribed natural protein was 6 g/day (range: 3-27), but when calculated, the actual median intake from all foods consumed was 10 g/day (range: 4-37). The median prescribed Phe was 300 mg/day (range: 150-1350), but the actual median intake was 500 mg/day (range: 200-1850). The median difference between the prescribed and actual natural protein daily intakes was +4 g/day (range: -2.5 to +11.5), with a median percentage increase of 40% for natural protein/Phe intake (p < 0.001). The median blood Phe level was 250 μmol/L (range 20-750), with 91% of blood Phe levels within the target range. Only one patient (11 years) had less than 75% of their blood Phe levels within the target range. The UK Phe exchange system provides flexibility in the dietary management of PKU. With this method, the actual natural protein intake was 167% higher than the prescribed amount. Although this led to a variable daily protein intake, the majority of children (n = 15/16) experienced no deterioration in their metabolic control.
- Suitability and Allocation of Protein-Containing Foods According to Protein Tolerance in PKU: A 2022 UK National ConsensusPublication . Gama, MI; Adam, S; Adams, S; Allen, H; Ashmore, C; Bailey, S; Cochrane, B; Dale, C; Daly, A; De Sousa, G; Donald, S; Dunlop, C; Ellerton, C; Evans, S; Firman, S; Ford, S; Freedman, F; French, M; Gaff, L; Gribben, J; Grimsley, A; Herlihy, I; Hill, M; Khan, F; McStravick, N; Millington, C; Moran, N; Newby, C; Nguyen, P; Purves, J; Pinto, A; César Rocha, J; Skeath, R; Skelton, A; Tapley, S; Woodall, A; Young, C; MacDonald, AIntroduction: There is little practical guidance about suitable food choices for higher natural protein tolerances in patients with phenylketonuria (PKU). This is particularly important to consider with the introduction of adjunct pharmaceutical treatments that may improve protein tolerance. Aim: To develop a set of guidelines for the introduction of higher protein foods into the diets of patients with PKU who tolerate >10 g/day of protein. Methods: In January 2022, a 26-item food group questionnaire, listing a range of foods containing protein from 5 to >20 g/100 g, was sent to all British Inherited Metabolic Disease Group (BIMDG) dietitians (n = 80; 26 Inherited Metabolic Disease [IMD] centres). They were asked to consider within their IMD dietetic team when they would recommend introducing each of the 26 protein-containing food groups into a patient’s diet who tolerated >10 g to 60 g/day of protein. The patient protein tolerance for each food group that received the majority vote from IMD dietetic teams was chosen as its tolerance threshold for introduction. A virtual meeting was held using Delphi methodology in March 2022 to discuss and agree final consensus. Results: Responses were received from dietitians from 22/26 IMD centres (85%) (11 paediatric, 11 adult). For patients tolerating protein ≥15 g/day, the following foods were agreed for inclusion: gluten-free pastas, gluten-free flours, regular bread, cheese spreads, soft cheese, and lentils in brine; for protein tolerance ≥20 g/day: nuts, hard cheeses, regular flours, meat/fish, and plant-based alternative products (containing 5−10 g/100 g protein), regular pasta, seeds, eggs, dried legumes, and yeast extract spreads were added; for protein tolerance ≥30 g/day: meat/fish and plant-based alternative products (containing >10−20 g/100 g protein) were added; and for protein tolerance ≥40 g/day: meat/fish and plant-based alternatives (containing >20 g/100 g protein) were added. Conclusion: This UK consensus by IMD dietitians from 22 UK centres describes for the first time the suitability and allocation of higher protein foods according to individual patient protein tolerance. It provides valuable guidance for health professionals to enable them to standardize practice and give rational advice to patients.
- The Impact of the Quality of Nutrition and Lifestyle in the Reproductive Years of Women with PKU on the Long-Term Health of Their ChildrenPublication . Gama, MI; Pinto, A; Daly, A; César Rocha, J; MacDonald, AA woman's nutritional status before and during pregnancy can affect the health of her progeny. Phenylketonuria (PKU), a rare disorder causing high blood and brain phenylalanine (Phe) concentrations, is associated with neurocognitive disability. Lifelong treatment is mainly dietetic with a Phe-restricted diet, supplemented with a low-Phe protein substitute. Treatment adherence commonly decreases in adolescence, with some adults ceasing dietary treatment. In maternal PKU, elevated blood Phe is harmful to the fetus so a strict Phe-restricted diet must be re-established preconception, and this is particularly difficult to achieve. A woman's reproductive years introduces an opportunity to adopt healthier behaviours to prepare for successful pregnancies and positive health outcomes for both themselves and their children. Several factors can influence the health status of women with PKU. Political, socioeconomic, and individual food and lifestyle choices affect diet quality, metabolic control, and epigenetics, which then pre-condition the overall maternal health and long-term health of the child. Here, we reflect on a comprehensive approach to treatment and introduce practical recommendations to optimize the wellbeing of women with PKU and the resultant health of their children.
- Weaning Practices in Phenylketonuria Vary Between Health Professionals in EuropePublication . Pinto, A; Adams, S; Ahring, K; Allen, H; Almeida, M F; Garcia-Arenas, D; Arslan, N; Assoun, M; Atik Altınok, Y; Barrio-Carreras, D; Belanger Quintana, A; Bernabei, S M; Bontemps, C; Boyle, F; Bruni, G; Bueno-Delgado, M; Caine, G; Carvalho, R; Chrobot, A; Chyż, K; Cochrane, B; Correia, C; Corthouts, K; Daly, A; De Leo, S; Desloovere, A; De Meyer, A; De Theux, A; Didycz, B; Dijsselhof, M E; Dokoupil, K; Drabik, J; Dunlop, C; Eberle-Pelloth, W; Eftring, K; Ekengren, J; Errekalde, I; Evans, S; Foucart, A; Fokkema, L; François, L; French, M; Forssell, E; Gingell, C; Gonçalves, C; Gökmen Özel, H; Grimsley, A; Gugelmo, G; Gyüre, E; Heller, C; Hensler, R; Jardim, I; Joost, C; Jörg-Streller, M; Jouault, C; Jung, A; Kanthe, M; Koç, N; Kok, I L; Kozanoğlu, T; Kumru, B; Lang, F; Lang, K; Liegeois, I; Liguori, A; Lilje, R; Ļubina, O; Manta-Vogli, P; Mayr, D; Meneses, C; Newby, C; Meyer, U; Mexia, S; Nicol, C; Och, U; Olivas, S M; Pedrón-Giner, C; Pereira, R; Plutowska-Hoffmann, K; Purves, J; Re Dionigi, A; Reinson, K; Robert, M; Robertson, L; Rocha, J C; Rohde, C; Rosenbaum-Fabian, S; Rossi, A; Ruiz, M; Saligova, J; Gutiérrez-Sánchez, A; Schlune, A; Schulpis, K; Serrano-Nieto, J; Skarpalezou, A; Skeath, R; Slabbert, A; Straczek, K; Giżewska, M; Terry, A; Thom, R; Tooke, A; Tuokkola, J; van Dam, E; van den Hurk, T A M; van der Ploeg, E M C; Vande Kerckhove, K; Van Driessche, M; van Wegberg, A M J; van Wyk, K; Vasconcelos, C; Velez García, V; Wildgoose, J; Winkler, T; Żółkowska, J; Zuvadelli, J; MacDonald, AIn phenylketonuria (PKU), weaning is considered more challenging when compared to feeding healthy infants. The primary aim of weaning is to gradually replace natural protein from breast milk or standard infant formula with solids containing equivalent phenylalanine (Phe). In addition, a Phe-free second stage L-amino acid supplement is usually recommended from around 6 months to replace Phe-free infant formula. Our aim was to assess different weaning approaches used by health professionals across Europe.
- Weaning Practices in Phenylketonuria Vary Between Health Professionals in EuropePublication . Pinto, A; Adams, S; Ahring, K; Allen, H; Almeida, MF; Garcia-Arenas, D; Arslan, N; Assoun, M; Atik Altınok, Y; Barrio-Carreras, D; Belanger Quintana, A; Bernabei, SM; Bontemps, C; Boyle, F; Bruni, G; Bueno-Delgado, M; Caine, G; Carvalho, R; Chrobot, A; Chyż, K; Cochrane, B; Correia, C; Corthouts, K; Daly, A; De Leo, S; Desloovere, A; De Meyer, A; De Theux, A; Didycz, B; Dijsselhof, ME; Dokoupil, K; Drabik, J; Dunlop, C; Eberle-Pelloth, W; Eftring, K; Ekengren, J; Errekalde, I; Evans, S; Foucart, A; Fokkema, L; François, L; French, M; Forssell, E; Gingell, C; Gonçalves, C; Gökmen Özel, H; Grimsley, A; Gugelmo, G; Gyüre, E; Heller, C; Hensler, R; Jardim, I; Joost, C; Jörg-Streller, M; Jouault, C; Jung, A; Kanthe, M; Koç, N; Kok, I L; Kozanoğlu, T; Kumru, B; Lang, F; Lang, K; Liegeois, I; Liguori, A; Lilje, R; Ļubina, O; Manta-Vogli, P; Mayr, D; Meneses, C; Newby, C; Meyer, U; Mexia, S; Nicol, C; Och, U; Olivas, SM; Pedrón-Giner, C; Pereira, R; Plutowska-Hoffmann, K; Purves, J; Re Dionigi, A; Reinson, K; Robert, M; Robertson, L; Rocha, JC; Rohde, C; Rosenbaum-Fabian, S; Rossi, A; Ruiz, M; Saligova, J; Gutiérrez-Sánchez, A; Schlune, A; Schulpis, K; Serrano-Nieto, J; Skarpalezou, A; Skeath, R; Slabbert, A; Straczek, K; Giżewska, M; Terry, A; Thom, R; Tooke, A; Tuokkola, J; van Dam, E; van den Hurk, TAM; van der Ploeg, E C; Vande Kerckhove, K; Van Driessche, M; van Wegberg, AMJ; van Wyk, K; Vasconcelos, C; Velez García, V; Wildgoose, J; Winkler, T; Żółkowska, J; Zuvadelli, J; MacDonald, AIn phenylketonuria (PKU), weaning is considered more challenging when compared to feeding healthy infants. The primary aim of weaning is to gradually replace natural protein from breast milk or standard infant formula with solids containing equivalent phenylalanine (Phe). In addition, a Phe-free second stage L-amino acid supplement is usually recommended from around 6 months to replace Phe-free infant formula. Our aim was to assess different weaning approaches used by health professionals across Europe.