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Learn About Glycogen Storage Disease Type 3

What is the definition of Glycogen Storage Disease Type 3?
Glycogen storage disease type 3 (GSDIII) is an inherited disorder caused by the buildup of glycogen in the body's cells. This buildup impairs the function of certain organs and tissues, especially the liver and muscles. Symptoms typically begin in infancy and may include hypoglycemia, hyperlipidemia (excess of fats in the blood), and elevated blood levels of liver enzymes; later symptoms may include hepatomegal and chronic liver disease (cirrhosis). Some individuals have short stature and noncancerous (benign) tumors called adenomas in the liver. GSDIII is cause by genetic changes in the AGL gene and is inherited in an autosomal recessive manner. GSDIII is divided into types IIIa, IIIb, IIIc, and IIId. Types IIIa and IIIc mainly affect the liver and muscles, and GSD types IIIb and IIId typically affect only the liver.
What are the alternative names for Glycogen Storage Disease Type 3?
  • Glycogen storage disease type 3
  • Amylo-1,6-glucosidase deficiency
  • Cori disease
  • Forbes disease
  • Glycogen debrancher deficiency
  • Limit dextrinosis
Who are the top Glycogen Storage Disease Type 3 Local Doctors?

The Monroe Clinic Inc

2009 5th St, 
Monroe, WI 
 (92.5 mi)
Languages Spoken:
English
Accepting New Patients
Offers Telehealth

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.

 
 
 
 
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What are the latest Glycogen Storage Disease Type 3 Clinical Trials?
French Observatory for Patients with Type 3 Glycogenosis

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...

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Novel Metabolic Muscular Biomarkers in Pompe Disease - a Non-invasive

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...

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Published Date: May 02, 2022
Published By: Genetic and Rare Diseases Informnation Center