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Author Spotlight: Evaluating Therapeutic Strategies to Enhance Liver Regeneration
Published on: May 24, 2024
Long-term outcome after liver transplantation in children with type 1 glycogen storage disease
Wing Yan Yuen1, Seng Hock Quak1,2, Marion M Aw1,2
1Khoo Teck Puat-National University Children's Medical Institute, National University Health System, Singapore, Singapore.
Insights
Liver transplantation (LT) offers positive long-term outcomes for children with Glycogen Storage Disease type 1 (GSD type 1), improving metabolic control. Two siblings experienced persistent hyperuricemia post-transplant.
Area of Science:
- Hepatology
- Pediatric Gastroenterology
- Transplant Surgery
Background:
- Glycogen Storage Disease type 1 (GSD type 1), also known as von Gierke disease, requires medical management to maintain normoglycemia.
- Liver transplantation (LT) is considered for GSD type 1 patients who do not achieve adequate metabolic control with conventional therapies.
Purpose of the Study:
- To describe the long-term outcomes of pediatric patients with GSD type 1 who underwent liver transplantation.
- To evaluate the efficacy of LT in improving metabolic control and managing complications associated with GSD type 1.
Main Methods:
- Retrospective chart review of 6 children diagnosed with GSD type 1 who underwent LT at National University Hospital, Singapore.
- Data collected from May 1998 to October 2018, including pre- and post-transplant clinical and biochemical parameters.
- Analysis focused on patient survival, graft function, metabolic control, and specific complications.
Main Results:
- All 6 patients survived post-transplant with no need for re-transplantation.
- Pre-transplant hypoglycemia resolved in all affected patients post-LT.
- Normalization of elevated liver enzymes was observed within one year post-transplantation for all patients.
- Two siblings presented with persistent hyperuricemia requiring allopurinol treatment post-LT.
Conclusions:
- Liver transplantation demonstrates positive long-term outcomes for pediatric GSD type 1, significantly improving metabolic control.
- LT effectively resolves hypoglycemia and normalizes liver enzymes in GSD type 1 patients.
- Persistent hyperuricemia is an unusual post-transplant complication noted in two siblings, necessitating specific management.
Abstract:
Patients with GSD type 1 (von Gierke disease) are initially managed medically to maintain normoglycemia. However, if they do not achieve good metabolic control, LT is then considered. We describe the long-term outcome of 6 children with GSD type 1 who underwent LT. Retrospective chart review of the data of 6 children with GSD type 1 who underwent LT at National University Hospital, Singapore, from May 1998 to October 2018, was performed. The median (IQR) age at diagnosis of the GSD was 1 year (0.92-5.50) and at transplant was 13.88 years (11.46-16.38). All of the patients had elevated liver enzymes, hypercholesterolemia, hypertriglyceridemia, and hyperlactatemia prior to transplant. All of the patients are alive at the time of analysis and follow-up. None of them required a re-transplant. For the three patients who had hypoglycemia pretransplant, there was no recurrence post-transplant. All of the patients had normalization of liver enzymes by 1 year post-transplant. Long-term outcome of patients with GSD who underwent LT has been positive with improvement in metabolic control for most patients. We report the unusual finding of two siblings with persistent hyperuricemia post-transplant requiring allopurinol.
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