Academic Journal
The fate of orally administered sialic acid: First insights from patients with N-acetylneuraminic acid synthase deficiency and control subjects
| العنوان: | The fate of orally administered sialic acid: First insights from patients with N-acetylneuraminic acid synthase deficiency and control subjects |
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| المؤلفون: | Christel Tran, Licia Turolla, Diana Ballhausen, Sandrine Cornaz Buros, Tony Teav, Hector Gallart-Ayala, Julijana Ivanisevic, Mohamed Faouzi, Dirk J. Lefeber, Ivan Ivanovski, Sara Giangiobbe, Stefano Giuseppe Caraffi, Livia Garavelli, Andrea Superti-Furga |
| المصدر: | Molecular Genetics and Metabolism Reports, Vol 28, Iss , Pp 100777- (2021) |
| بيانات النشر: | Elsevier, 2021. |
| سنة النشر: | 2021 |
| المجموعة: | LCC:Medicine (General) LCC:Biology (General) |
| مصطلحات موضوعية: | Sialic acid, NANS deficiency, Developmental delay, Nutrition therapy, Brain gangliosides, Medicine (General), R5-920, Biology (General), QH301-705.5 |
| الوصف: | Background: In NANS deficiency, biallelic mutations in the N-acetylneuraminic acid synthase (NANS) gene impair the endogenous synthesis of sialic acid (N-acetylneuraminic acid) leading to accumulation of the precursor, N-acetyl mannosamine (ManNAc), and to a multisystemic disorder with intellectual disability. The aim of this study was to determine whether sialic acid supplementation might be a therapeutic avenue for NANS-deficient patients. Methods: Four adults and two children with NANS deficiency and four adult controls received oral NeuNAc acid (150 mg/kg/d) over three days. Total NeuNAc, free NeuNAc and ManNAc were analyzed in plasma and urine at different time points. Results: Upon NeuNAc administration, plasma free NeuNAc increased within hours (P |
| نوع الوثيقة: | article |
| وصف الملف: | electronic resource |
| اللغة: | English |
| تدمد: | 2214-4269 67894046 |
| Relation: | http://www.sciencedirect.com/science/article/pii/S2214426921000719; https://doaj.org/toc/2214-4269 |
| DOI: | 10.1016/j.ymgmr.2021.100777 |
| URL الوصول: | https://doaj.org/article/63d32cbd678940469e7e39b261c4ce6e |
| رقم الانضمام: | edsdoj.63d32cbd678940469e7e39b261c4ce6e |
| قاعدة البيانات: | Directory of Open Access Journals |
Full Text Finder | تدمد: | 22144269 67894046 |
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| DOI: | 10.1016/j.ymgmr.2021.100777 |