Von Gierke hastalığı, glikoz-6-fosfataz (G6P) enziminin eksikliği nedeniyle ortaya çıkar 12. Bu enzim, karaciğerde glikojenin glikoza metabolize edilmesini sağlar 1.
Hastalığın nedeni, G6PC geninde meydana gelen genetik bir mutasyondur13. Bu mutasyon, glikojenin anormal bir şekilde karaciğer ve böbreklerde birikmesine yol açar 2.
Von Gierke hastalığı kalıtsal olup, her iki ebeveynden de kusurlu genin alınmasıyla ortaya çıkar 23.
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eksikliği** nedeniyle ortaya çıkar [```1```](https://evrimagaci.org/glikojen-depo-hastaligi-9005)[```2```](https://www.medicoverhospitals.in/diseases/von-gierke-disease/). Bu enzim, karaciğerde glikojenin glikoza metabolize edilmesini sağlar [```1```](https://evrimagaci.org/glikojen-depo-hastaligi-9005).\n\nHastalığın nedeni, **G6PC geninde meydana gelen genetik bir mutasyondur** [```1```](https://evrimagaci.org/glikojen-depo-hastaligi-9005)[```3```](https://www.ebsco.com/research-starters/health-and-medicine/von-gierke-disease). Bu mutasyon, glikojenin anormal bir şekilde karaciğer ve böbreklerde birikmesine yol açar [```2```](https://www.medicoverhospitals.in/diseases/von-gierke-disease/).\n\nVon Gierke hastalığı **kalıtsal** olup, her iki ebeveynden de kusurlu genin alınmasıyla ortaya çıkar [```2```](https://www.medicoverhospitals.in/diseases/von-gierke-disease/)[```3```](https://www.ebsco.com/research-starters/health-and-medicine/von-gierke-disease).","sources":[{"sourceId":1,"url":"https://evrimagaci.org/glikojen-depo-hastaligi-9005","title":"Glikojen Depo Hastalığı - Evrim Ağacı","shownUrl":"https://evrimagaci.org/glikojen-depo-hastaligi-9005"},{"sourceId":2,"url":"https://www.medicoverhospitals.in/diseases/von-gierke-disease/","title":"Von Gierke Disease: Symptoms, Diagnosis and Treatment","shownUrl":"https://www.medicoverhospitals.in/diseases/von-gierke-disease/"},{"sourceId":3,"url":"https://www.ebsco.com/research-starters/health-and-medicine/von-gierke-disease","title":"Von Gierke Disease | EBSCO 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