glycogen storage disease VIII

Summary
Synonym
  • Glycogen storage disease 8
  • glycogen storage disease type VIII
  • glycogenosis type VIII
  • hepatic glycogen phosphorylase kinase deficiency
Definition
A glycogen storage disease that is characterized hepatomegaly, increased liver glycogen, and decreased leukocyte phosphorylase and results from the lack of expression of phosphorylase-b-kinase activity.
Super Class
X-linked recessive disease glycogen storage disease
External Links
Disease Ontology
DOID:2751
Mondo Disease Ontology
MeSH
UMLS
Related Genes
Displaying all 2 entries
Gene ID Gene Symbol Description Source
2538 G6PC1 glucose-6-phosphatase catalytic subunit 1
2678 GGT1 gamma-glutamyltransferase 1
Related Glycoprotein

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: August 19, 2024