Long-term Outcomes of Living Donor Liver Transplantation for Glycogen Storage Disease Type 1b.

Glycogen storage disease (GSD) type 1b (OMIM 232220) is an autosomal recessive inborn error of carbohydrate metabolism caused by defects in glucose-6-phosphatase translocase (G6PT). GSD1b patients have severe hypoglycemia with several clinical manifestations of hepatomegaly, obesity, a doll-like face, and neutropenia. Liver transplantation (LT) has been indicated for severe glucose intolerance, poor metabolic control, and poor growth. We retrospectively reviewed 11 children with GSD1b who underwent living-donor LT (LDLT) at the National Center for Child Health and Development, Tokyo, Japan. Between November 2005 and December 2018, 495 children underwent LDLT with an overall 10-year patient and graft survival of 90.6% and 88.9%, respectively. Of these, LT was indicated for 11 patients with GSD-1b. All patients are doing well with the stabilization of glucose intolerance and decreased hospitalization for infectious complications. Demand for granulocyte colony stimulating factor (G-CSF) significantly decreased. However, while LT stabilized the blood glucose level, the platelet function was not improved. The post-transplant developmental quotient (DQ) remained similar to the pre-transplant DQ without deterioration. LDLT is a feasible procedure for GSD-1b patients with regard to the long-term prognosis. LT should be considered for patients with severe glucose intolerance in order to protect the cognitive function against hypoglycemic encephalopathy and ameliorate the poor metabolic control and poor growth.