{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,5,13]],"date-time":"2025-05-13T15:22:16Z","timestamp":1747149736848,"version":"3.40.5"},"reference-count":36,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2024,3,4]],"date-time":"2024-03-04T00:00:00Z","timestamp":1709510400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100004243","name":"Prinses Beatrix Spierfonds","doi-asserted-by":"publisher","award":["W.OR17\u201015"],"award-info":[{"award-number":["W.OR17\u201015"]}],"id":[{"id":"10.13039\/501100004243","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["JIMD Reports"],"published-print":{"date-parts":[[2024,5]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Three forms of muscular dystrophy\u2010dystroglycanopathies are linked to the ribitol pathway. These include mutations in the isoprenoid synthase domain\u2010containing protein (<jats:italic>ISPD<\/jats:italic>), fukutin\u2010related protein (<jats:italic>FKRP<\/jats:italic>), and fukutin (<jats:italic>FKTN<\/jats:italic>) genes. The aforementioned enzymes are required for generation of the ribitol phosphate linkage in the O\u2010glycan of alpha\u2010dystroglycan. 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\u2010ribitol (CDP\u2010ribitol) and had a therapeutic effect. Here, we report the safety and effects of oral ribose supplementation during 6\u2009months in a patient with limb girdle muscular dystrophy type 2I (LGMD2I) due to a homozygous <jats:italic>FKRP<\/jats:italic> mutation. Ribose was well tolerated in doses of 9\u2009g or 18\u2009g\/day. Supplementation with 18\u2009g of ribose resulted in a decrease of creatine kinase levels of 70%. Moreover, metabolomics showed a significant increase in CDP\u2010ribitol levels with 18\u2009g of ribose supplementation (<jats:italic>p<\/jats:italic>\u2009&lt;\u20090.001). Although objective improvement in clinical and patient\u2010reported outcome measures was not observed, the patient reported subjective improvement of muscle strength, fatigue, and pain. This case study indicates that ribose supplementation in patients with dystroglycanopathy is safe and highlights the importance for future studies regarding its potential effects.<\/jats:p>","DOI":"10.1002\/jmd2.12394","type":"journal-article","created":{"date-parts":[[2024,3,5]],"date-time":"2024-03-05T05:39:48Z","timestamp":1709617188000},"page":"171-181","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Oral ribose supplementation in dystroglycanopathy: A single case study"],"prefix":"10.1002","volume":"65","author":[{"given":"R. M. J.","family":"Thewissen","sequence":"first","affiliation":[{"name":"Department of Neurology Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center  Nijmegen The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7433-9048","authenticated-orcid":false,"given":"M. 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