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Pathway Description
Glycogenosis, Type VII. Tarui Disease
Homo sapiens
Disease Pathway
Created: 2022-11-28
Last Updated: 2023-10-25
Glycogen storage disease, Type VII, also called GSD VII and Tarui Disease, is an inborn error of metabolism (IEM) and metabolic disorder caused by a defective 6-phosphofructokinase. 6-phosphofructokinase catalyzes the conversion of fructose 6-phosphate into fructose 1,6-bisphosphate which is the substrate of fructose-bisphosphate aldolase A. This disorder is characterized by a large accumulation of fructose 6-phosphate. Symptoms of the disorder include anemia, increased muscle glycogen content and myotonia. Currently, the major treatment for Glycogen storage disease, Type VII is associated with diet management.
References
Glycogenosis, Type VII. Tarui Disease References
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