Glycogen storage disease type I (GSD-I) consists of a group of autosomal recessive disorders that cause metabolic abnormalities and/or myeloid dysfunction. This Review addresses the etiology of GSD-Ia and GSD-Ib and of glucose-6-phosphatase-β deficiency and highlights advances in diagnosis and treatment, including transplantation and gene therapy.
- Janice Y. Chou
- Hyun Sik Jun
- Brian C. Mansfield
