Glycogen storage disease type I (GSDI), an inborn error of carbohydrate metabolism, is caused by defects in the
glucose-6-transporter/
glucose-6-phosphatase complex, which is essential in
glucose homeostasis. Two types exist, GSDIa and GSDIb, each caused by different defects in the complex. GSDIa is characterized by fasting intolerance and subsequent metabolic derangements. In addition to these clinical manifestations, patients with GSDIb suffer from
neutropenia with neutrophil dysfunction and
inflammatory bowel disease.With the feasibility of novel cell-based
therapies, including hepatocyte
transplantations and liver
stem cell transplantations, it is essential to consider long term outcomes of liver replacement
therapy. We reviewed all GSDI patients with
liver transplantation identified in literature and through personal communication with treating physicians. Our review shows that all 80 GSDI patients showed improved metabolic control and normal fasting tolerance after
liver transplantation. Although some complications might be caused by
disease progression, most complications seemed related to the
liver transplantation procedure and subsequent immune suppression. These results highlight the potential of other therapeutic strategies, like cell-based
therapies for liver replacement, which are expected to normalize liver function with a lower risk of complications of the procedure and immune suppression.