Glycogen Storage disease type I
Von Gierke disease spectrum
GSD Ia involves G6PC1; GSD Ib involves SLC37A4. Both impair the final release of glucose from glucose 6-phosphate.
Overview
EXPLORE BY LEVELThe liver and kidney need a final transport-and-A protein that speeds up a chemical reaction in a cell. step to turn A simple sugar cells can use as a source of energy and as a starting material for other molecules. 6-phosphate into A simple sugar cells can use as a source of energy and as a starting material for other molecules. for release. GSD type I can result from changes in G6PC1 or SLC37A4, which affect different parts of that system.
Quick Facts
AT A GLANCEFollow the Connections
See how Glycogen Storage disease type I links to other biological records.
All 4 Structured Connections
Recommended Reading
Trusted references for learning more about Glycogen Storage disease type I.
Research Claims
The type I glycogen-storage disease spectrum includes distinct molecular subtypes. This record separates G6PC1 catalytic activity from SLC37A4-mediated substrate transport and links them to shared physiological glucose-export steps.