Improved neutrophil function in a glycogen storage disease type 1b patient after liver transplantation.

Abstract

Patients with glycogen storage disease type 1b (GSD1b) not only show hepatomegaly, hypoglycaemia and lactic acidosis, but also neutropenia and neutrophil dysfunction. Here, we report improvement of neutropenia and neutrophil function in a 22-year-old male GSD1b patient who had undergone living-related partial liver transplantation (LT) at 18 years of age. After LT, the patient's infectious episodes decreased, gastrointestinal symptoms ameliorated, neutrophil counts increased, and neutrophil function tests normalised. Although it is not known whether this improvement was causally related to liver transplantation, this may be the first recorded case of restoration of neutrophil dysfunction in a glycogen storage disease type 1b patient.