Emerging therapies for glycogen storage disease type I.
Glycogen storage disease type I (GSD I) is caused by deficiency of the glucose-6-phosphatase catalytic subunit in type Ia or of glucose-6-phosphate transporter in type Ib. The cellular bases for disruptions of homeostasis have been increasingly understood in GSD I, including those for anemia, renal failure and neutropenia. Advances in the understanding of cellular abnormalities in GSD I have provided rationales for new therapy, and recent developments in gene therapy have led to potential curative treatments for GSD I. These advances will benefit patients with GSD I in the future, improving both quality of life and survival, as well as illuminating the molecular effects of altered metabolism upon multiple organ systems.
Koeberl
D D
DD
Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC 27710, USA. dwight.koeberl@duke.edu
Kishnani
P S
PS
Bali
D
D
Chen
Y-T
YT
D015316:Genetic Therapy / Q000379:methods*; D005953:Glycogen Storage Disease Type I / Q000235:genetics / Q000378:metabolism / Q000628:therapy*; D006801:Humans; D008954:Models, Biological