Orthotopic Liver Transplantation in Glycogen Storage Disease Type 1a

Abstract

Glycogen storage disease type 1a (GSD 1a) is a rare inborn error of metabolism. It causes severe fasting intolerance and lactic acidosis due to the deficiency of glucose-6-phosphatase enzyme. Blood glucose and lactate concentrations from 2 patients with GSD 1a were retrospectively compared to a control group of patients with familial amyloid polyneuropathy. Carbohydrate intake and infusions were compared to experimental data based on stable isotope studies. Perioperative lactate concentrations were significantly higher in our 2 patients with GSD 1a (median 15.0 mmol/L; range 9.9-22.0 mmol/L) versus 8 controls. In one patient, despite normal blood glucose concentrations, lactate acidosis was probably caused by a combination of the disease itself, insufficient (par)enteral carbohydrate intake, Ringer lactate infusions, and circulatory insufficiency. Patients with GSD 1a carry an increased risk of lactic acidosis during orthotopic liver transplantation compared to non-GSD patients. Multidisciplinary perioperative care is essential to prevent significant complications.

Glycogen Storage Disease Type Ia: Current Management Options, Burden and Unmet Needs

“…Boers et al published a retrospective, observational study of 80 patients with GSD type I, in whom liver transplantation was indicated because of HCA/liver abnormalities/focal nodular hyperplasia (29 patients), poor metabolic control (27 patients), growth retardation (13 patients, some with delayed puberty and sexual maturation), renal failure (five patients, three of whom received a combined liver and kidney transplant), bleeding complications leading to anaemia (one patient) and acute pancreatitis due to severe hypertriglyceridaemia (one patient) [82]. Patients with GSDIa who undergo liver transplantation are at risk of severe lactic acidosis in the perioperative period if managed by healthcare providers with limited experience in GSDIa [83]. While patients with GSD type I who receive a functional liver transplant achieve normal metabolic control and normal fasting tolerance, they are at risk of complications associated with the transplant itself and require subsequent immune suppression [82].…”