Activation of glycolysis and apoptosis in glycogen storage disease type Ia

Baodong Sun, Songtao Li, Liu Yang, Tirupapuliyur Damodaran, Dev Desai, Anna Mae Diehl, Oscar Alzate, Dwight D. Koeberl

Research output: Contribution to journalArticlepeer-review

17 Scopus citations


The deficiency of glucose-6-phosphatase (G6Pase) underlies glycogen storage disease type Ia (GSD-Ia, von Gierke disease; MIM 232200), an autosomal recessive disorder of metabolism associated with life-threatening hypoglycemia, growth retardation, renal failure, hepatic adenomas, and hepatocellular carcinoma. Liver involvement includes the massive accumulation of glycogen and lipids due to accumulated glucose-6-phosphate and glycolytic intermediates. Proteomic analysis revealed elevations in glyceraldehyde-3-phosphate dehydrogenase (GAPDH) and other enzymes involved in glycolysis. GAPDH was markedly increased in murine G6Pase-deficient hepatocytes. The moonlighting role of GAPDH includes increasing apoptosis, which was demonstrated by increased TUNEL assay positivity and caspase 3 activation in the murine GSD-Ia liver. These analyses of hepatic involvement in GSD-Ia mice have implicated the induction of apoptosis in the pathobiology of GSD-Ia.

Original languageEnglish (US)
Pages (from-to)267-271
Number of pages5
JournalMolecular genetics and metabolism
Issue number4
StatePublished - Aug 2009


  • Apoptosis
  • Fatty liver
  • Gene therapy
  • Glucose-6-phosphatase
  • Glyceraldehyde-3-phosphate dehydrogenase
  • Glycogen storage disease
  • Inherited disorder of metabolism
  • von Gierke disease

ASJC Scopus subject areas

  • Endocrinology, Diabetes and Metabolism
  • Biochemistry
  • Molecular Biology
  • Genetics
  • Endocrinology


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