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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. [ABSTRACT FROM AUTHOR]

Introduction: chronic kidney disease (CKD) is characterized by its high prevalence of malnutrition, difficult to detect as it is underestimated by the usual tools. There is no valid or hospital-level nutritional screening tool in Spanish to identify patients with CKD at risk of malnutrition. Objective: to translate and accomplish the transcultural adaptation of Jackson‘s questionnaire (Renal Inpatient Nutrition Screening Tool [Renal iNUT]) to Spanish, which detects the risk of malnutrition in CKD inpatients and compares it with other nutritional tools. Methods: phase 1: translation, back-translation and transcultural adaptation of the questionnaire from the English to the Spanish version. A pilot test was carried out by nursing staff together with a satisfaction questionnaire. Phase 2: comparison of Renal iNUT with Malnutrition Universal Screening Tool (MUST) and Subjective Global Assessment (SGA). Results: phase 1: the nursing staff’s perception was highly favorable. They found it easy or very easy to use and 90 % of them did it in a maximum of ten minutes. Phase 2: from 48 patients included, Renal iNUT detected 44 % at low risk of malnutrition, 28 % at intermediate risk and 28 % at high risk. Increased sensitivity of Renal iNUT (p < 0.007) vs MUST (62.5 vs 33.3 %) and similar specificity (87.1 vs 90.6 %) were found, together with an acceptable correlation compared to SGA (r = 0.75, 95 % CI: 0.67 to 0.83). Conclusions: the Spanish version of Renal iNUT is a useful and easy-to-understand tool for health professionals. We also confirm its good correlation with SGA, with greater sensitivity than MUST for the risk of malnutrition detection in CKD inpatients. [ABSTRACT FROM AUTHOR]