Glycogen storage disorders (GSDs) are inborn errors of metabolism with abnormal storage or utilization of glycogen. The present review focuses on recent advances in hepatic GSD types I, III and VI/IX, with emphasis on clinical aspects and treatment.
Evidence accumulates that poor metabolic control is a risk factor for the development of long-term complications, such as liver adenomas, low bone density/osteoporosis, and kidney disease in GSD I. However, mechanisms leading to these complications remain poorly understood and are being investigated. Molecular causes underlying neutropenia and neutrophil dysfunction in GSD I have been elucidated. Case series provide new insights into the natural course and outcome of GSD types VI and IX. For GSD III, a high protein/fat diet has been reported to improve (cardio)myopathy, but the beneficial effect of this dietary concept on muscle and liver disease manifestations needs to be further established in prospective studies.
Although further knowledge has been gained regarding pathophysiology, disease course, treatment, and complications of hepatic GSDs, more controlled prospective studies are needed to assess effects of different dietary and medical treatment options on long-term outcome and quality of life.
aDivision of Metabolism and Children's Research Center, University Children's Hospital
bDivision of Endocrinology, Diabetes, and Clinical Nutrition, University Hospital Zurich
cradiz – Rare Disease Initiative Zurich, Clinical Research Priority Program for Rare Diseases, University of Zurich, Switzerland
Correspondence to Michel Hochuli, MD, PhD, University Hospital Zurich, Division of Endocrinology, Diabetes and Clinical Nutrition, Raemistrasse 100, 8091 Zurich, Switzerland. Tel: +41 44 255 11 11; fax: +41 44 255 33 30; e-mail: email@example.com