Gliyogenosis type Ib is a rare genetic disorder, mainly comprising metabolic and immunological issues. Due to deficiency of the G6PT transporter, the very last reaction of glycogen degradation to glucose, i.e. the conversion of glucose-6-phosphate to glucose is blocked. The principal consequence is life-threatening hypoglycemia as inability of utilizing glycogen storages between meals prevents the organism to maintain blood glucose homeostasis. Since G6PT is expressed ubiquitously, not only the liver, as the main glycogen reservoir, are affected, but also there are additional consequences, such as neutropenia. Currently there is no treatment for GSD Ib, however an ideal one would be able to correct the pathogenic mutation of the affected gene and insert the desired change in every single cell of the patient’s organism. CRISPR-Cas9 system would be an interesting technology towards this solution, especially prime editing and base editing mechanisms. However, current applications of CRISPR-Cas9 are mainly limited to basic research, as technology has not yet achieved an appropriate safety and efficacy level for gene therapy. Moreover, existing delivery mechanisms are confronted with similar safety and size capacity issues and are currently unable to reach all cells with the same efficacy. Regardless of all the challenges, new investigations are still the source of progress.
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