Publications by authors named "Maria de Tallo Forga-Visa"
Background: Continued dietary treatment since early diagnosis through newborn screening programs usually prevents brain-related complications in phenylketonuria (PKU). However, subtle neurocognitive and brain alterations may be observed in some adult patients despite early treatment. Nevertheless, neuropsychological and neuroimaging studies in the field remain scarce.
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- Phenylketonuria (PKU) is a common congenital disorder leading to high levels of phenylalanine, which can cause serious neurological issues; early diagnosis and treatment have significantly improved outcomes.
- As the first generation of treated PKU patients reaches adulthood, their unique nutritional needs—including enteral nutrition (EN)—are increasingly important, yet guidelines on EN for PKU are lacking.
- The case study presented shows a successful method of using EN in an adult PKU patient by separately administering protein substitutes and other EN products to prevent nutritional mix-related issues and complications.
Article Synopsis
- Lysinuric protein intolerance (LPI) is a rare genetic metabolic disorder caused by mutations in the SLC7A7 gene, which affects the transport of cationic amino acids and can lead to serious complications during pregnancy.
- A 28-year-old woman with LPI faced several challenges during her pregnancy, including early miscarriages, food aversion, and increased risks of growth restriction and complications such as preeclampsia.
- Despite initial concerns about her desire for a natural childbirth without medication, the use of innovative strategies and interdisciplinary teamwork allowed for a successful delivery, highlighting the importance of considering patients' preferences in the context of their medical conditions.
Aim: to communicate the home parenteral nutrition (HPN) data obtained from the HPN registry of the NADYA-SENPE group (www.nadya-senpe.com) for the year 2019.
View Article and Find Full Text PDFAim: to present the results of the Spanish home enteral nutrition (HEN) registry of the NADYA-SENPE group for the years 2018 and 2019. Material and methods: from January 1, 2018 to December 31, 2019 the home enteral nutrition registry was recorded, and afterwards a further descriptive and analytical analysis was done. Results: in 2018, 4756 active patients were registered and the prevalence was 101.
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