Preparing Enteral Formulas for Adult Patients with Phenylketonuria: A Minor Necessity but Major Challenge—A Case Report Article Swipe
Adriana Pané
,
Marcos Carrasco-Serrano
,
Camila Milad
,
Pere Leyes
,
Pedro Moreno
,
Roser Ventura
,
José C. Milisenda
,
Francesc Josep García‐García
,
Glòria Garrabou
,
Judit García‐Villoria
,
Rosa María López-Galera
,
Antònia Ribes
,
Josep M. Grau‐Junyent
,
Maria de Talló Forga-Visa
,
C. Carbonell
·
YOU?
·
· 2023
· Open Access
·
· DOI: https://doi.org/10.3390/jcm12237452
YOU?
·
· 2023
· Open Access
·
· DOI: https://doi.org/10.3390/jcm12237452
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.
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- Type
- article
- Language
- en
- Landing Page
- https://doi.org/10.3390/jcm12237452
- https://www.mdpi.com/2077-0383/12/23/7452/pdf?version=1701420775
- OA Status
- gold
- Cited By
- 2
- References
- 43
- Related Works
- 10
- OpenAlex ID
- https://openalex.org/W4389237636
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Raw OpenAlex JSON
- OpenAlex ID
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https://openalex.org/W4389237636Canonical identifier for this work in OpenAlex
- DOI
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https://doi.org/10.3390/jcm12237452Digital Object Identifier
- Title
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Preparing Enteral Formulas for Adult Patients with Phenylketonuria: A Minor Necessity but Major Challenge—A Case ReportWork title
- Type
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articleOpenAlex work type
- Language
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enPrimary language
- Publication year
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2023Year of publication
- Publication date
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2023-12-01Full publication date if available
- Authors
-
Adriana Pané, Marcos Carrasco-Serrano, Camila Milad, Pere Leyes, Pedro Moreno, Roser Ventura, José C. Milisenda, Francesc Josep García‐García, Glòria Garrabou, Judit García‐Villoria, Rosa María López-Galera, Antònia Ribes, Josep M. Grau‐Junyent, Maria de Talló Forga-Visa, C. CarbonellList of authors in order
- Landing page
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https://doi.org/10.3390/jcm12237452Publisher landing page
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https://www.mdpi.com/2077-0383/12/23/7452/pdf?version=1701420775Direct link to full text PDF
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YesWhether a free full text is available
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goldOpen access status per OpenAlex
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https://www.mdpi.com/2077-0383/12/23/7452/pdf?version=1701420775Direct OA link when available
- Concepts
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Medicine, Enteral administration, Parenteral nutrition, Pediatrics, Intensive care medicine, Phenylalanine, Amino acid, Biochemistry, ChemistryTop concepts (fields/topics) attached by OpenAlex
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2Total citation count in OpenAlex
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2024: 2Per-year citation counts (last 5 years)
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43Number of works referenced by this work
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10Other works algorithmically related by OpenAlex
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| abstract_inverted_index.these | 123, 163 |
| abstract_inverted_index.total | 132 |
| abstract_inverted_index.tubes | 183 |
| abstract_inverted_index.where | 208 |
| abstract_inverted_index.whole | 128 |
| abstract_inverted_index.whose | 78 |
| abstract_inverted_index.amount | 140 |
| abstract_inverted_index.casein | 118 |
| abstract_inverted_index.energy | 133 |
| abstract_inverted_index.errors | 9 |
| abstract_inverted_index.normal | 59 |
| abstract_inverted_index.result | 167 |
| abstract_inverted_index.severe | 32 |
| abstract_inverted_index.Herein, | 192 |
| abstract_inverted_index.L-amino | 115 |
| abstract_inverted_index.avoided | 220 |
| abstract_inverted_index.becomes | 149 |
| abstract_inverted_index.changed | 53 |
| abstract_inverted_index.ensures | 126 |
| abstract_inverted_index.enteral | 87, 181 |
| abstract_inverted_index.feeding | 85, 156, 182 |
| abstract_inverted_index.leading | 179 |
| abstract_inverted_index.low-Phe | 49 |
| abstract_inverted_index.newborn | 46 |
| abstract_inverted_index.offered | 110 |
| abstract_inverted_index.patient | 205 |
| abstract_inverted_index.present | 194 |
| abstract_inverted_index.protein | 103, 135, 213 |
| abstract_inverted_index.reached | 76 |
| abstract_inverted_index.special | 79 |
| abstract_inverted_index.through | 45, 86 |
| abstract_inverted_index.treated | 73 |
| abstract_inverted_index.Although | 102 |
| abstract_inverted_index.However, | 90 |
| abstract_inverted_index.achieved | 44 |
| abstract_inverted_index.clinical | 55 |
| abstract_inverted_index.concerns | 188 |
| abstract_inverted_index.defects. | 34 |
| abstract_inverted_index.disease, | 43 |
| abstract_inverted_index.formulas | 125, 165 |
| abstract_inverted_index.frequent | 5 |
| abstract_inverted_index.multiple | 112 |
| abstract_inverted_index.patients | 69, 106 |
| abstract_inverted_index.products | 148, 219 |
| abstract_inverted_index.reported | 197 |
| abstract_inverted_index.separate | 210 |
| abstract_inverted_index.specific | 164 |
| abstract_inverted_index.standard | 176 |
| abstract_inverted_index.(Phe-free | 114 |
| abstract_inverted_index.clogging, | 184 |
| abstract_inverted_index.cognitive | 60 |
| abstract_inverted_index.diagnosed | 71 |
| abstract_inverted_index.diagnosis | 37 |
| abstract_inverted_index.different | 147 |
| abstract_inverted_index.essential | 23 |
| abstract_inverted_index.including | 84, 137 |
| abstract_inverted_index.necessary | 150 |
| abstract_inverted_index.nutrition | 88, 153 |
| abstract_inverted_index.products, | 178 |
| abstract_inverted_index.provision | 129 |
| abstract_inverted_index.regarding | 92 |
| abstract_inverted_index.required. | 158 |
| abstract_inverted_index.resulting | 57 |
| abstract_inverted_index.screening | 47 |
| abstract_inverted_index.spectrum, | 56 |
| abstract_inverted_index.treatment | 39 |
| abstract_inverted_index.addressed, | 83 |
| abstract_inverted_index.adulthood, | 77 |
| abstract_inverted_index.artificial | 152 |
| abstract_inverted_index.associated | 30 |
| abstract_inverted_index.commercial | 124 |
| abstract_inverted_index.congenital | 8 |
| abstract_inverted_index.constitute | 96 |
| abstract_inverted_index.generation | 66 |
| abstract_inverted_index.metabolism | 14 |
| abstract_inverted_index.profoundly | 52 |
| abstract_inverted_index.worldwide. | 15 |
| abstract_inverted_index.combination | 145 |
| abstract_inverted_index.composition | 161 |
| abstract_inverted_index.literature. | 101 |
| abstract_inverted_index.perinatally | 70 |
| abstract_inverted_index.substitutes | 104, 214 |
| abstract_inverted_index.Importantly, | 159 |
| abstract_inverted_index.accumulation | 20 |
| abstract_inverted_index.development. | 61 |
| abstract_inverted_index.interactions | 170 |
| abstract_inverted_index.neurological | 33 |
| abstract_inverted_index.Consequently, | 143 |
| abstract_inverted_index.interactions. | 222 |
| abstract_inverted_index.phenylalanine | 25 |
| abstract_inverted_index.requirements, | 136 |
| abstract_inverted_index.supplements), | 120 |
| abstract_inverted_index.administration | 211 |
| abstract_inverted_index.Phenylketonuria | 0 |
| abstract_inverted_index.physicochemical | 169, 221 |
| abstract_inverted_index.recommendations | 91 |
| abstract_inverted_index.gastrointestinal | 187 |
| abstract_inverted_index.hyperosmolality. | 191 |
| abstract_inverted_index.glycomacropeptide | 119 |
| cited_by_percentile_year.max | 96 |
| cited_by_percentile_year.min | 94 |
| corresponding_author_ids | https://openalex.org/A5017856350, https://openalex.org/A5011781667 |
| countries_distinct_count | 1 |
| institutions_distinct_count | 15 |
| corresponding_institution_ids | https://openalex.org/I2801357902, https://openalex.org/I4210115082, https://openalex.org/I4210115097 |
| citation_normalized_percentile.value | 0.65670886 |
| citation_normalized_percentile.is_in_top_1_percent | False |
| citation_normalized_percentile.is_in_top_10_percent | False |