8 documents found, page 1 of 1
Biochemical and Anthropometric Outcomes in Paediatric Patients with Heterozygou...
Peres, M; Moreira-Rosário, A; Padeira, G; Gaspar Silva, P; Correia, C; Nunes, A; Garcia, E; Faria, A; Teixeira, D; Calhau, C; Pereira-da-Silva, LThe COVID-19 pandemic lockdowns affected the lifestyles of children and adolescents, leading to an increase in childhood obesity. Paediatric patients with familial hypercholesterolemia (FH) may be more susceptible to lockdown effects due to their increased cardiovascular risk. However, data are lacking. We investigated the effect of lockdowns on the metabolic profile of paediatric patients with FH. Blood lipids...
Natural Protein Intake in Children with Phenylketonuria: Prescription vs. Actua...
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 th...
A Multinational Study of Acute and Long‐Term Outcomes of Type 1 Galactosemia Pa...
Katler, Q; Stepien, K; Paull, N; Patel, S; Adams, M; Balci, M; Berry, G; Bosch, A; DeLaO, A; Demirbas, D; Edman, J; Ficicioglu, C; Goff, M; Hacker, SPatients with galactosemia who carry the S135L (c.404C > T) variant of galactose-1-P uridylyltransferase (GALT), documented to encode low-level residual GALT activity, have been under-represented in most prior studies of outcomes in Type 1 galactosemia. What is known about the acute and long-term outcomes of these patients, therefore, is based on very limited data. Here, we present a study comparing acute and l...
Suitability and Allocation of Protein-Containing Foods According to Protein Tol...
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, SIntroduction: 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 ...
The Impact of the Quality of Nutrition and Lifestyle in the Reproductive Years ...
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, ...
In Vivo Metabolic Responses to Different Formulations of Amino Acid Mixtures fo...
Giarratana, N; Giardino, L; Bighinati, A; Reiner, G; César Rocha, JPhenylketonuria (PKU) is a rare autosomal recessive inborn error of metabolism where the mainstay of treatment is a Phe restricted diet consisting of a combination of limited amounts of natural protein with supplementation of Phe-free or low-Phe protein substitutes and special low protein foods. Suboptimal outcomes may be related to the different absorption kinetics of free AAs, which have lower biological effi...
Management of Early Treated Adolescents and Young Adults With Phenylketonuria: ...
Burton, B; Hermida, A; Bélanger-Quintana, A; Bell, H; Bjoraker, K; Christ, S; Grant, M; Harding, C; Huijbregts, S; Longo, N; McNutt, M; Nguyen-Driver, MBackground: Early treated patients with phenylketonuria (PKU) often become lost to follow-up from adolescence onwards due to the historical focus of PKU care on the pediatric population and lack of programs facilitating the transition to adulthood. As a result, evidence on the management of adolescents and young adults with PKU is limited. Methods: Two meetings were held with a multidisciplinary international p...
Development of a Practical Dietitian Road Map for the Nutritional Management of...
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 fa...