Glycogen Storage Disease Type 3 Overview
Learn About Glycogen Storage Disease Type 3
- Glycogen storage disease type 3
- Amylo-1,6-glucosidase deficiency
- Cori disease
- Forbes disease
- Glycogen debrancher deficiency
- Limit dextrinosis
The Monroe Clinic Inc
Joshua Morrison is a Neurologist in Monroe, Wisconsin. Dr. Morrison and is rated as an Advanced provider by MediFind in the treatment of Glycogen Storage Disease Type 3. His top areas of expertise are Seizures, Memory Loss, Multiple Sclerosis (MS), and Restless Legs Syndrome. Dr. Morrison is currently accepting new patients.
Summary: Glycogen storage disease type III (GSD-III) or Cori/Forbes disease, is caused by autosomal recessive mutations in the AGL gene, which codes for the glycogen debranching enzyme (GDE) involved in the release of glucose-1P from glycogen branches. Abnormal glycogen accumulation is responsible for frequent hypoglycaemia and symptoms in the liver and striated muscles (GSD-IIIa), although some patients p...
Summary: Previous studies have indicated that 13C-MRS in the ultra-high 7T magnetic resonance (MR) field is a potential non-invasive measurement method for assessing changes in muscle glycogen levels in PoD patients. However, in a single study, increases in glycogen intermediates were observed using the even more sensitive 31P-MRS technique in a mouse model of PoD and in glycogen storage disease III in hum...
Published Date: May 02, 2022
Published By: Genetic and Rare Diseases Informnation Center