Continuous use of glycomacropeptide in the nutritional management of patients with phenylketonuria: a clinical perspective

Orphanet Journal of Rare Diseases

Cláudia Camila Dias¹  Nuno Borges²  Paula Cristina Ramos³  Catarina de Sousa Barbosa³  Júlio César Rocha⁴  Manuela Ferreira de Almeida⁵  Arlindo Guimas⁶  Anabela Bandeira⁶  Sara Rocha⁶  Rosa Ribeiro⁷  Esmeralda Martins⁷  Maria João Pena⁸  Anita MacDonald⁹  Alex Pinto^1,10 

[1] Center for Health Technology and Services Research (CINTESIS), 4200-450, Porto, Portugal;Department of Community Medicine, Information and Health Sciences (MEDCIDS), Faculty of Medicine, University of Porto, 4200-450, Porto, Portugal;Center for Health Technology and Services Research (CINTESIS), 4200-450, Porto, Portugal;Faculdade de Ciências da Nutrição e Alimentação, Universidade do Porto, 4150-180, Porto, Portugal;Centro de Genética Médica, Centro Hospitalar Universitário Do Porto (CHUP), 4099-028, Porto, Portugal;Centro de Referência na área das Doenças Hereditárias do Metabolismo, CHUP, 4099-001, Porto, Portugal;Centro de Genética Médica, Centro Hospitalar Universitário Do Porto (CHUP), 4099-028, Porto, Portugal;Centro de Referência na área das Doenças Hereditárias do Metabolismo, CHUP, 4099-001, Porto, Portugal;Center for Health Technology and Services Research (CINTESIS), 4200-450, Porto, Portugal;Nutrition and Metabolism, Nova Medical School, Faculdade de Ciências Médicas, Universidade Nova de Lisboa, 1169-056, Lisbon, Portugal;Centro de Genética Médica, Centro Hospitalar Universitário Do Porto (CHUP), 4099-028, Porto, Portugal;Centro de Referência na área das Doenças Hereditárias do Metabolismo, CHUP, 4099-001, Porto, Portugal;UMIB/ICBAS/UP), Unit for Multidisplinary Research in Biomedicine, Abel Salazar Institute of Biomedical Sciences, University of Porto, 4050-313, Porto, Portugal;Centro de Referência na área das Doenças Hereditárias do Metabolismo, CHUP, 4099-001, Porto, Portugal;Centro de Referência na área das Doenças Hereditárias do Metabolismo, CHUP, 4099-001, Porto, Portugal;UMIB/ICBAS/UP), Unit for Multidisplinary Research in Biomedicine, Abel Salazar Institute of Biomedical Sciences, University of Porto, 4050-313, Porto, Portugal;Departamento de Biomedicina, Unidade de Bioquímica, Faculdade de Medicina, Universidade do Porto, 4200-319, Porto, Portugal;Department of Dietetics, Birmingham Children’s Hospital, B4 6NH, Birmingham, UK;Department of Dietetics, Birmingham Children’s Hospital, B4 6NH, Birmingham, UK;Faculty of Health and Human Sciences, University of Plymouth, PL6 8BH, Plymouth, UK;

关键词: Casein glycomacropeptide;    Amino acids;    Nutritional status;    Phenylketonuria;    Phenylalanine;    Tyrosine;   

DOI  :  10.1186/s13023-021-01721-8

来源: Springer

【 摘 要 】

BackgroundIn 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.ResultsCGMP-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).ConclusionsBiochemical 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.

【 授权许可】

CC BY