3 documents found, page 1 of 1
European Guidelines on Diagnosis and Treatment of Phenylketonuria: First Revision.
van Wegberg, A M J; MacDonald, A; Ahring, K; Bélanger-Quintana, A; Beblo, S; Blau, N; Bosch, A M; Burlina, A; Campistol, J; Coşkun, T; Feillet, FPhenylketonuria (PKU) is an autosomal recessive inherited disorder of phenylalanine metabolism caused by deficiency of the enzyme phenylalanine hydroxylase that converts phenylalanine into tyrosine. Untreated, PKU results in elevated phenylalanine levels in blood and brain, which cause severe intellectual disability, epilepsy and behavioural problems. For this first revision of the European PKU Guidelines previ...
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...