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Updated: Jun 22, 2026
07:16
Biochemical Titration of Glycogen In vitro
Published on: November 25, 2013
Disturbed lipid metabolism in glycogen storage disease type 1
Robert H J Bandsma1, G Peter A Smit, Folkert Kuipers
1Centre for Liver, Digestive and Metabolic Diseases, Room Y2117, CMCIV, University Hospital Groningen, Hanzeplein 1, PO Box 30001, 9700 RB Groningen The Netherlands. R.H.J.Bandsma@med.rug.nl
European Journal of Pediatrics
|October 10, 2002
Summary
Glycogen storage disease type 1 (GSD1) impairs lipid metabolism, causing high blood lipids and fatty liver. This review explores GSD1
Area of Science:
- Biochemistry
- Metabolic Disorders
- Genetics
Background:
- Glycogen storage disease type 1 (GSD1) results from glucose-6-phosphatase deficiency, impacting glucose metabolism.
- GSD1 is characterized by severe hyperlipidemia and hepatic steatosis, with unclear underlying mechanisms.
- Existing knowledge on lipid metabolism abnormalities in GSD1 is incomplete.
Purpose of the Study:
- To review current data on hyperlipidemia and hepatic steatosis in GSD1.
- To propose new hypotheses for unresolved issues in GSD1 lipid metabolism.
- To elucidate the role of elevated glucose-6-phosphate in regulating lipogenesis.
Main Methods:
- Literature review of GSD1 studies focusing on lipid metabolism.
- Analysis of patient data regarding de novo lipogenesis and cholesterol synthesis.
- Examination of animal models to assess very low-density lipoprotein-triglyceride secretion rates.
Main Results:
- Evidence suggests decreased lipid clearance from the blood in GSD1.
- Significant increases in palmitate and cholesterol synthesis observed in GSD1a patients.
- Elevated hepatic glucose-6-phosphate may activate lipogenic gene transcription, contributing to lipid synthesis.
- Accelerated glycolysis provides acetyl-CoA for lipogenesis.
- Hepatic steatosis is primarily attributed to increased free fatty acid flux and de novo lipogenesis.
Conclusions:
- Disturbances in lipid and lipoprotein metabolism in GSD1 require further investigation.
- The role of glucose-6-phosphate in GSD1 lipid abnormalities needs clarification.
- Future studies employing stable isotope methodologies are essential for a comprehensive understanding.
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