A therapeutic agent for diseases associated with abnormal dystroglycan sugar chain modification and a method for measuring related enzymes

摘要

Provided is a therapeutic agent that works effectively for diseases associated with abnormal dystroglycan sugar chain modification. Provided is a method for testing a disease associated with dystroglycan sugar chain abnormality. It is based on a therapeutic agent for a disease associated with abnormal dystroglycan sugar chain modification containing CDP-ribitol as an active ingredient. Ribitol phosphate is important in the sugar chain structure of dystroglycan, and the material (sugar donor) is required for ribitol phosphate to be incorporated into the dystroglycan sugar chain. It has been found for the first time in the present invention that CDP-ribitol is a sugar donor. It was confirmed that the administration of CDP-ribitol could restore the sugar chains of ISPD-deficient cells, and thus completed the present invention in which CDP-ribitol can be used for replacement therapy.