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Pathway Description
Glycogenosis, Type IB
Homo sapiens
Disease Pathway
Created: 2013-08-29
Last Updated: 2022-12-15
Glycogenosis, Type IB, also called von Gierke disease or GSDI, is a rare inborn error of metabolism (IEM) and autosomal recessive disorder which caused by a defective glucose-6-phosphate 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.
References
Glycogenosis, Type IB References
[Metagen: GLYCOGENOSIS, TYPE IB](http://metagene.de/program/d.prg?id_d=157)
[OMIM: 232220](http://omim.org/entry/232220})
[NIH](http://ghr.nlm.nih.gov/condition/glycogen-storage-disease-type-i)
Schaub J, Bartholome K, Feist D, Schmidt H: Glycogenosis type Ib. Further evidence for a membrane disease. Eur J Pediatr. 1981 Feb;135(3):325.
Pubmed: 6939589
Gluconeogenesis References
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Pubmed: 15489334
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