Impaired Glucose Metabolism, Primary Cilium Defects, and Kidney Cystogenesis in Glycogen Storage Disease Type Ia

What is it about?

Glycogen storage disease type Ia (GSD1a) is a rare metabolic disease characterized by hypoglycemia and accumulation of glycogen and lipids in the kidney. In this study, we highlight in GSDIa the key role of impaired glucose metabolism that supports cell proliferation and cyst formation. In various cystic kidney diseases, metabolic disturbances are also associated to primary cilia abnormalities that are involved in cystogenesis. Thus, targeting renal metabolism by pharmacological approaches or restricted diets could prevent cystogenesis and chronic kidney disease, either in GSDIa or other cystic kidney diseases.

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