Preparing Enteral Formulas for Adult Patients with Phenylketonuria: A Minor Necessity but Major Challenge-A Case Report.

Autor: Pané A; Endocrinology and Nutrition Department, Hospital Clínic, 08036 Barcelona, Spain.; Adult Inborn Errors of Metabolism Unit, Hospital Clínic, 08036 Barcelona, Spain.; Centro de Investigación Biomédica en Red de la Fisiopatología de la Obesidad y Nutrición (CIBEROBN), Instituto de Salud Carlos III (ISCIII), 28029 Madrid, Spain., Carrasco-Serrano M; Endocrinology and Nutrition Department, Hospital Clínic, 08036 Barcelona, Spain.; Adult Inborn Errors of Metabolism Unit, Hospital Clínic, 08036 Barcelona, Spain., Milad C; Endocrinology and Nutrition Department, Hospital Clínic, 08036 Barcelona, Spain., Leyes P; Endocrinology and Nutrition Department, Hospital Clínic, 08036 Barcelona, Spain.; Adult Inborn Errors of Metabolism Unit, Hospital Clínic, 08036 Barcelona, Spain., Moreno-Lozano PJ; Adult Inborn Errors of Metabolism Unit, Hospital Clínic, 08036 Barcelona, Spain.; Asociación Española para el Estudio de los Errores Congénitos del Metabolismo (AECOM), 28221 Majadahonda, Spain.; Internal Medicine Department, Hospital Clínic, 08036 Barcelona, Spain., Ventura R; Adult Inborn Errors of Metabolism Unit, Hospital Clínic, 08036 Barcelona, Spain.; Internal Medicine Department, Hospital Clínic, 08036 Barcelona, Spain., Milisenda JC; Adult Inborn Errors of Metabolism Unit, Hospital Clínic, 08036 Barcelona, Spain.; Internal Medicine Department, Hospital Clínic, 08036 Barcelona, Spain.; Fundació Clínic per la Recerca Biomèdica (FCRB), Institut d'Investigacions Biomèdiques August Pi Sunyer (IDIBAPS), 08036 Barcelona, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III (ISCIII), 28220 Madrid, Spain., García-García FJ; Adult Inborn Errors of Metabolism Unit, Hospital Clínic, 08036 Barcelona, Spain.; Fundació Clínic per la Recerca Biomèdica (FCRB), Institut d'Investigacions Biomèdiques August Pi Sunyer (IDIBAPS), 08036 Barcelona, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III (ISCIII), 28220 Madrid, Spain.; Inherited Metabolic Diseases and Muscle Disorders Laboratory, FCRB-IDIBAPS, Faculty of Medicine and Heath Sciences, University of Barcelona, 08036 Barcelona, Spain., Garrabou G; Adult Inborn Errors of Metabolism Unit, Hospital Clínic, 08036 Barcelona, Spain.; Fundació Clínic per la Recerca Biomèdica (FCRB), Institut d'Investigacions Biomèdiques August Pi Sunyer (IDIBAPS), 08036 Barcelona, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III (ISCIII), 28220 Madrid, Spain.; Inherited Metabolic Diseases and Muscle Disorders Laboratory, FCRB-IDIBAPS, Faculty of Medicine and Heath Sciences, University of Barcelona, 08036 Barcelona, Spain., García-Villoria J; Adult Inborn Errors of Metabolism Unit, Hospital Clínic, 08036 Barcelona, Spain.; Asociación Española para el Estudio de los Errores Congénitos del Metabolismo (AECOM), 28221 Majadahonda, Spain.; Fundació Clínic per la Recerca Biomèdica (FCRB), Institut d'Investigacions Biomèdiques August Pi Sunyer (IDIBAPS), 08036 Barcelona, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III (ISCIII), 28220 Madrid, Spain.; Division of Inborn Errors of Metabolism-IBC, Biochemistry and Molecular Genetics Department, Hospital Clínic, 08036 Barcelona, Spain., López-Galera RM; Adult Inborn Errors of Metabolism Unit, Hospital Clínic, 08036 Barcelona, Spain.; Asociación Española para el Estudio de los Errores Congénitos del Metabolismo (AECOM), 28221 Majadahonda, Spain.; Fundació Clínic per la Recerca Biomèdica (FCRB), Institut d'Investigacions Biomèdiques August Pi Sunyer (IDIBAPS), 08036 Barcelona, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III (ISCIII), 28220 Madrid, Spain.; Division of Inborn Errors of Metabolism-IBC, Biochemistry and Molecular Genetics Department, Hospital Clínic, 08036 Barcelona, Spain., Ribes A; Adult Inborn Errors of Metabolism Unit, Hospital Clínic, 08036 Barcelona, Spain.; Asociación Española para el Estudio de los Errores Congénitos del Metabolismo (AECOM), 28221 Majadahonda, Spain.; Fundació Clínic per la Recerca Biomèdica (FCRB), Institut d'Investigacions Biomèdiques August Pi Sunyer (IDIBAPS), 08036 Barcelona, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III (ISCIII), 28220 Madrid, Spain.; Division of Inborn Errors of Metabolism-IBC, Biochemistry and Molecular Genetics Department, Hospital Clínic, 08036 Barcelona, Spain., Grau-Junyent JM; Adult Inborn Errors of Metabolism Unit, Hospital Clínic, 08036 Barcelona, Spain.; Internal Medicine Department, Hospital Clínic, 08036 Barcelona, Spain.; Fundació Clínic per la Recerca Biomèdica (FCRB), Institut d'Investigacions Biomèdiques August Pi Sunyer (IDIBAPS), 08036 Barcelona, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III (ISCIII), 28220 Madrid, Spain., Forga-Visa MT; Endocrinology and Nutrition Department, Hospital Clínic, 08036 Barcelona, Spain.; Adult Inborn Errors of Metabolism Unit, Hospital Clínic, 08036 Barcelona, Spain.; Asociación Española para el Estudio de los Errores Congénitos del Metabolismo (AECOM), 28221 Majadahonda, Spain., Montserrat-Carbonell C; Endocrinology and Nutrition Department, Hospital Clínic, 08036 Barcelona, Spain.; Adult Inborn Errors of Metabolism Unit, Hospital Clínic, 08036 Barcelona, Spain.; Asociación Española para el Estudio de los Errores Congénitos del Metabolismo (AECOM), 28221 Majadahonda, Spain., On Behalf Of Pku Cat Consortium
Jazyk: angličtina
Zdroj: Journal of clinical medicine [J Clin Med] 2023 Dec 01; Vol. 12 (23). Date of Electronic Publication: 2023 Dec 01.
DOI: 10.3390/jcm12237452
Abstrakt: Phenylketonuria (PKU) is the most frequent of the congenital errors of amino acid (AA) metabolism worldwide. It leads to the accumulation of the essential AA phenylalanine (Phe) and it is associated with severe neurological defects. The early diagnosis and treatment of this rare disease, achieved through newborn screening and low-Phe diet, has profoundly changed its clinical spectrum, resulting in normal cognitive development. We face the first generation of PKU patients perinatally diagnosed and treated who have reached adulthood, whose special needs must be addressed, including feeding through enteral nutrition (EN). However, recommendations regarding EN in PKU constitute a gap in the literature. Although protein substitutes for patients with PKU are offered in multiple forms (Phe-free L-amino acid or casein glycomacropeptide supplements), none of these commercial formulas ensures the whole provision of daily total energy and protein requirements, including a safe amount of Phe. Consequently, the combination of different products becomes necessary when artificial nutrition via tube feeding is required. Importantly, the composition of these specific formulas may result in physicochemical interactions when they are mixed with standard EN products, leading to enteral feeding tubes clogging, and also gastrointestinal concerns due to hyperosmolality. Herein, we present the first reported case of EN use in an adult patient with PKU, where the separate administration of protein substitutes and the other EN products avoided physicochemical interactions.
Databáze: MEDLINE
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