Maria João Pena1, Alex Pinto2,3, Manuela Ferreira de Almeida4,5,6, Catarina de Sousa Barbosa4,5, Paula Cristina Ramos4,5, Sara Rocha5, Arlindo Guimas5, Rosa Ribeiro5,6, Esmeralda Martins5,6, Anabela Bandeira5, Cláudia Camila Dias7,8, Anita MacDonald2, Nuno Borges7,9, Júlio César Rocha10,11,12,13. 1. Departamento de Biomedicina, Unidade de Bioquímica, Faculdade de Medicina, Universidade do Porto, 4200-319, Porto, Portugal. 2. Department of Dietetics, Birmingham Children's Hospital, Birmingham, B4 6NH, UK. 3. Faculty of Health and Human Sciences, University of Plymouth, Plymouth, PL6 8BH, UK. 4. Centro de Genética Médica, Centro Hospitalar Universitário Do Porto (CHUP), 4099-028, Porto, Portugal. 5. Centro de Referência na área das Doenças Hereditárias do Metabolismo, CHUP, 4099-001, Porto, Portugal. 6. UMIB/ICBAS/UP), Unit for Multidisplinary Research in Biomedicine, Abel Salazar Institute of Biomedical Sciences, University of Porto, 4050-313, Porto, Portugal. 7. Center for Health Technology and Services Research (CINTESIS), 4200-450, Porto, Portugal. 8. Department of Community Medicine, Information and Health Sciences (MEDCIDS), Faculty of Medicine, University of Porto, 4200-450, Porto, Portugal. 9. Faculdade de Ciências da Nutrição e Alimentação, Universidade do Porto, 4150-180, Porto, Portugal. 10. Centro de Genética Médica, Centro Hospitalar Universitário Do Porto (CHUP), 4099-028, Porto, Portugal. rochajc@nms.unl.pt. 11. Centro de Referência na área das Doenças Hereditárias do Metabolismo, CHUP, 4099-001, Porto, Portugal. rochajc@nms.unl.pt. 12. Center for Health Technology and Services Research (CINTESIS), 4200-450, Porto, Portugal. rochajc@nms.unl.pt. 13. Nutrition and Metabolism, Nova Medical School, Faculdade de Ciências Médicas, Universidade Nova de Lisboa, 1169-056, Lisbon, Portugal. rochajc@nms.unl.pt.
Abstract
BACKGROUND: In phenylketonuria (PKU), modified casein glycomacropeptide supplements (CGMP-AA) are used as an alternative to the traditional phenylalanine (Phe)-free L-amino acid supplements (L-AA). However, studies focusing on the long-term nutritional status of CGMP-AA are lacking. This retrospective study evaluated the long-term impact of CGMP-AA over a mean of 29 months in 11 patients with a mean age at CGMP-AA onset of 28 years (range 15-43) [8 females; 2 hyperphenylalaninaemia (HPA), 3 mild PKU, 3 classical PKU and 3 late-diagnosed]. Outcome measures included metabolic control, anthropometry, body composition and biochemical parameters. RESULTS: CGMP-AA, providing 66% of protein equivalent intake from protein substitute, was associated with no significant change in blood Phe with CGMP-AA compared with baseline (562 ± 289 µmol/L vs 628 ± 317 µmol/L; p = 0.065). In contrast, blood tyrosine significantly increased on CGMP-AA (52.0 ± 19.2 μmol/L vs 61.4 ± 23.8 μmol/L; p = 0.027). CONCLUSIONS: Biochemical nutritional markers remained unchanged which is an encouraging finding in adults with PKU, many of whom are unable to maintain full adherence with nutritionally fortified protein substitutes. Longitudinal, prospective studies with larger sample sizes are necessary to fully understand the metabolic impact of using CGMP-AA in PKU.
BACKGROUND: In phenylketonuria (PKU), modified casein glycomacropeptide supplements (CGMP-AA) are used as an alternative to the traditional phenylalanine (Phe)-free L-amino acid supplements (L-AA). However, studies focusing on the long-term nutritional status of CGMP-AA are lacking. This retrospective study evaluated the long-term impact of CGMP-AA over a mean of 29 months in 11 patients with a mean age at CGMP-AA onset of 28 years (range 15-43) [8 females; 2 hyperphenylalaninaemia (HPA), 3 mild PKU, 3 classical PKU and 3 late-diagnosed]. Outcome measures included metabolic control, anthropometry, body composition and biochemical parameters. RESULTS: CGMP-AA, providing 66% of protein equivalent intake from protein substitute, was associated with no significant change in blood Phe with CGMP-AA compared with baseline (562 ± 289 µmol/L vs 628 ± 317 µmol/L; p = 0.065). In contrast, blood tyrosine significantly increased on CGMP-AA (52.0 ± 19.2 μmol/L vs 61.4 ± 23.8 μmol/L; p = 0.027). CONCLUSIONS: Biochemical nutritional markers remained unchanged which is an encouraging finding in adults with PKU, many of whom are unable to maintain full adherence with nutritionally fortified protein substitutes. Longitudinal, prospective studies with larger sample sizes are necessary to fully understand the metabolic impact of using CGMP-AA in PKU.
Authors: Denise M Ney; Sangita G Murali; Bridget M Stroup; Nivedita Nair; Emily A Sawin; Fran Rohr; Harvey L Levy Journal: Mol Genet Metab Date: 2017-04-06 Impact factor: 4.797
Authors: A Pinto; M F Almeida; P C Ramos; S Rocha; A Guimas; R Ribeiro; E Martins; A Bandeira; A MacDonald; J C Rocha Journal: Eur J Clin Nutr Date: 2017-04-12 Impact factor: 4.016
Authors: A Pinto; M F Almeida; A Cunha; C Carmona; S Rocha; A Guimas; R Ribeiro; C R Mota; E Martins; A MacDonald; J C Rocha Journal: Mol Genet Metab Rep Date: 2017-10-18
Authors: Cristina Proserpio; Ella Pagliarini; Juri Zuvadelli; Sabrina Paci; Alice Re Dionigi; Giuseppe Banderali; Camilla Cattaneo; Elvira Verduci Journal: Nutrients Date: 2018-08-28 Impact factor: 5.717
Authors: Kirsten K Ahring; Allan M Lund; Erik Jensen; Thomas G Jensen; Karen Brøndum-Nielsen; Michael Pedersen; Allan Bardow; Jens Juul Holst; Jens F Rehfeld; Lisbeth B Møller Journal: J Nutr Metab Date: 2018-01-08