دورية أكاديمية
Oral ribose supplementation in dystroglycanopathy: A single case study
| العنوان: | Oral ribose supplementation in dystroglycanopathy: A single case study |
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| المؤلفون: | R. M. J. Thewissen, M. A. Post, D. M. Maas, R. Veizaj, I. Wagenaar, M. Alsady, J. Kools, K. Bouman, H. Zweers, P. G. Meregalli, A. J. van derKooi, P. A. vanDoorn, J. T. Groothuis, D. J. Lefeber, N. C. Voermans |
| المصدر: | JIMD Reports, Vol 65, Iss 3, Pp 171-181 (2024) |
| بيانات النشر: | Wiley, 2024. |
| سنة النشر: | 2024 |
| المجموعة: | LCC:Diseases of the endocrine glands. Clinical endocrinology LCC:Genetics |
| مصطلحات موضوعية: | alpha‐dystroglycan, CDP‐ribitol, FKRP, muscular dystrophy, ribose, trial, Diseases of the endocrine glands. Clinical endocrinology, RC648-665, Genetics, QH426-470 |
| الوصف: | Abstract Three forms of muscular dystrophy‐dystroglycanopathies are linked to the ribitol pathway. These include mutations in the isoprenoid synthase domain‐containing protein (ISPD), fukutin‐related protein (FKRP), and fukutin (FKTN) genes. The aforementioned enzymes are required for generation of the ribitol phosphate linkage in the O‐glycan of alpha‐dystroglycan. Mild cases of dystroglycanopathy present with slowly progressive muscle weakness, while in severe cases the eyes and brain are also involved. Previous research showed that ribose increased the intracellular concentrations of cytidine diphosphate‐ribitol (CDP‐ribitol) and had a therapeutic effect. Here, we report the safety and effects of oral ribose supplementation during 6 months in a patient with limb girdle muscular dystrophy type 2I (LGMD2I) due to a homozygous FKRP mutation. Ribose was well tolerated in doses of 9 g or 18 g/day. Supplementation with 18 g of ribose resulted in a decrease of creatine kinase levels of 70%. Moreover, metabolomics showed a significant increase in CDP‐ribitol levels with 18 g of ribose supplementation (p |
| نوع الوثيقة: | article |
| وصف الملف: | electronic resource |
| اللغة: | English |
| تدمد: | 2192-8312 |
| Relation: | https://doaj.org/toc/2192-8312 |
| DOI: | 10.1002/jmd2.12394 |
| URL الوصول: | https://doaj.org/article/1815c6e982004a889620da37199c4367 |
| رقم الأكسشن: | edsdoj.1815c6e982004a889620da37199c4367 |
| قاعدة البيانات: | Directory of Open Access Journals |
Full Text Finder | تدمد: | 21928312 |
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| DOI: | 10.1002/jmd2.12394 |