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Pathway Description
Glycogenosis, Type IC
Homo sapiens
Disease Pathway
Created: 2022-12-16
Last Updated: 2023-10-25
Glycogenosis, Type IC, a sub-category of glycogen storage disease type I, is a rare inborn error of metabolism (IEM) and caused by a defective glucose-6-phosphatase translocase. Glucose-6-phosphate translocase transports glucose 6-phosphate from endoplasmic reticulum (ER) to cell, which glucose 6-phosphate is required for various pathways as the substrate. This disorder damages the ability of converting glycogen into glucose. Symptoms of the disorder include longer sleeping time through night, tiredness and seizures due to low blood sugar. Treatment with diet management is very effective. Currently, only few cases have been reported.
References
Glycogenosis, Type IC References
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