Metabolic Control in Patients With Phenylketonuria Pre- and Post-Sapropterin Loading Test
| العنوان: | Metabolic Control in Patients With Phenylketonuria Pre- and Post-Sapropterin Loading Test |
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| المؤلفون: | Rosa Ribeiro, Arlindo Guimas, Nuno Borges, Sara Rocha, Anabela Bandeira, Júlio César Rocha, M.F. Almeida, Esmeralda Martins, Bruno Oliveira, Catarina Sousa Barbosa, Cátia A. Sousa, Anita MacDonald |
| المساهمون: | Faculdade de Ciências da Nutrição e Alimentação |
| المصدر: | Journal of Inborn Errors of Metabolism and Screening v.6 2018 Journal of Inborn Errors of Metabolism and Screening Instituto Genética para Todos (IGPT) instacron:IGPT Journal of Inborn Errors of Metabolism and Screening, Volume: 6, Article number: e170028, Published: 28 FEB 2019 Repositório Científico de Acesso Aberto de Portugal Repositório Científico de Acesso Aberto de Portugal (RCAAP) instacron:RCAAP Journal of Inborn Errors of Metabolism and Screening, Vol 6 (2018) |
| بيانات النشر: | FapUNIFESP (SciELO), 2018. |
| سنة النشر: | 2018 |
| مصطلحات موضوعية: | 0301 basic medicine, congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, Endocrinology, Diabetes and Metabolism, phenylketonuria, 030209 endocrinology & metabolism, Phenylalanine, 030105 genetics & heredity, 03 medical and health sciences, 0302 clinical medicine, Internal medicine, Medicine, In patient, Pre and post, Genetics (clinical), lcsh:R5-920, business.industry, Health sciences, Medical and Health sciences, Ciências médicas e da saúde, nutritional and metabolic diseases, metabolic control, Tetrahydrobiopterin, Endocrinology, BH4 loading test, Metabolic control analysis, Pediatrics, Perinatology and Child Health, Medical and Health sciences, Ciências da Saúde, Ciências médicas e da saúde, lcsh:Medicine (General), business, medicine.drug |
| الوصف: | In Portugal, tetrahydrobiopterin (BH4)-responsive patients with phenylketonuria (PKU) are identified using a loading test (LT). Phenylalanine/natural protein (Phe/NP) intake is increased to elevate blood Phe prior to the LT. In a longitudinal retrospective study, the impact of Phe/NP titration post-LT in 58 patients (19.6 + 8.2 years) with PKU during 4 study periods (SPs) was examined. In SP1 (2010-2013), patients were diet treated only; in SP2 (2014), the Phe/NP titration was followed by the LT in SP3 (2015). In SP4 (2016), patients received diet treatment only (n ¼ 49) or BH4 þdiet (n ¼ 9). The median percentage blood Phe within the target range was higher in SP1 versus SP4 (64 [28-85] vs 45 [0-66]; P < .001). Our results suggest that transient Phe/NP titration, associated with a deliberate increase in NP, may adversely affect metabolic control. Controlled studies are necessary to examine the longer term impact of temporary increased NP with BH4 LT in non-BH4-responsive patients. |
| وصف الملف: | application/pdf; text/html |
| تدمد: | 2326-4594 2326-4098 |
| URL الوصول: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::64f7f8052e39a90e086f2b5b3379fc56 https://doi.org/10.1177/2326409818788898 |
| حقوق: | OPEN |
| رقم الأكسشن: | edsair.doi.dedup.....64f7f8052e39a90e086f2b5b3379fc56 |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 23264594 23264098 |
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