Introduction: Glycogen storage diseases (GSDs) are inherited metabolic disorders result from impaired glycogen storage, glycogen or glucose breakdown. Liver transplantation (LT) is considered as a treatment option for patients with glycogen storage diseases present with hepatic malignancy, liver failure or metabolic decompensation. GSD type Ia is associated with mutations in the G6PC gene due to deficiency of glucose-6-phosphotase, while glycogen storage disease type 9 results from phosphorylase kinase deficiency, an enzyme necessary for glycogen breakdown. Herein, we present our experience and transplantation outcomes in 7 pediatric patients with GSD who underwent LT.   

Methods: We retrospectively analyzed data from patients diagnosed with GSD who underwent LT between 1993-2021 years.    

Results:  LT was performed in 6 patients with GSD type 1a and one patient with GSD type 9. Four patients had a family history of consanguinity (3 patients 1st degree, 1 patient 2nd degree). Mean age of diagnosis was 7.28 (1-24) months.  Mean age of LT was 128.5 (13-216) months. Transplantation indications were hepatic adenoma (4/7), poor metabolic control (4/7) and cirrhosis (1/7). Extra-hepatic findings included proteinuria (4/7), Focal segmental glomerulosclerosis (1/7), proximal tubulopathy (4/7), nephrolithiasis (2/7), hyperlipidemia (7/7), delayed puberty (3/7), hypertension (2/7), short stature (6/7), epilepsy (2/7) and osteoporosis (4/7). One patient with GSD1a underwent cataract surgery. Three patients with GSD1a incidentally had the same G6PC gene mutations (c.247C>T). Three patients had normal cognitive functions and development (WISC-R Test). Two patients had mild where one patient had moderate mental retardation. One patient had %30 developmental delay (AGTE Test).

Six patients underwent LT from living-related donors while one patient had cadaveric donor. Patients who underwent LT from live donors received left lateral segment. Explant liver pathology revealed variable numbers (1-12) of hepatic adenoma in 4 patients. Hepatocellular carcinoma (HCC) was detected in one patient.  Serum lactate, uric acid and triglyceride levels normalized after LT. Tubulopathy resolved in one patient while epilepsy continued in two patients. Height SD scores were improved in 4 patients while remained unchanged in one patient after 5-year follow up. Acute graft rejection was detected in 4 patients. Mean follow up time was 80 (3-183) months. All patients are still alive and routinely followed up at our department.

Conclusion: LT improved the quality of life in our GSD patients with metabolic decompensation and severe disease manifestations. Biochemical parameters (lactate, uric acid and triglyceride levels) normalized after transplantation. Our patients displayed improved height growth. LT should be considered in GSD patients with poor metabolic control despite dietary management, hepatic malignancy or progressive liver failure.