Liver transplantation in glycogen storage disease: a single-center experience

Orphanet J Rare Dis. 2022 Mar 21;17(1):127. doi: 10.1186/s13023-022-02284-y.


Background: Glycogen storage diseases (GSDs) are inherited glycogen metabolic disorders which have various subtypes. GSDs of type I, III, IV, VI, and IX show liver involvement and are considered as hepatic types of GSDs. Thus, liver transplantation (LT) has been proposed as a final therapy for these types of GSD. LT corrects the primary hepatic enzyme defect; however, the long-term outcomes of LT in these patients have not been extensively evaluated so far. There are few reports in the English literature about the outcome of GSD patients after LT. There has been no report from Iran. The present retrospective study aimed to evaluate the long-term outcomes of eight patients with GSD types I, III, and IV who underwent LT in the affiliated hospitals of Shiraz University of Medical Sciences, from March 2013 to June 2021. During this period, there were no patients with GSD VI and IX identified in this center.

Results: The median time of diagnosis of the GSDs and at transplant was 1 year and 11 years, respectively. All eight transplanted patients were alive at the time of follow-up in this study. None of them required a re-transplant. All of the patients showed normalized liver enzymes after LT with no sign of hypoglycemia.

Conclusions: LT is an achievable treatment for end-stage hepatic involvement of GSDs with a cure for metabolic deficiency. Our experience in these eight patients shows a favorable outcome with no mortality and no major complication.

Keywords: Cirrhosis; Glycogen storage disease; Liver transplantation; Metabolic control; Outcome.

MeSH terms

  • Glycogen Storage Disease Type I* / complications
  • Glycogen Storage Disease Type I* / metabolism
  • Glycogen Storage Disease Type I* / surgery
  • Glycogen Storage Disease Type III* / complications
  • Glycogen Storage Disease Type III* / metabolism
  • Glycogen Storage Disease Type VI* / complications
  • Glycogen Storage Disease Type VI* / metabolism
  • Glycogen Storage Disease* / diagnosis
  • Glycogen Storage Disease* / metabolism
  • Glycogen Storage Disease* / surgery
  • Humans
  • Liver / metabolism
  • Liver Transplantation*
  • Retrospective Studies