Glycogen Storage Disease Type 3 Overview

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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?
Elite in Glycogen Storage Disease Type 3
Dr. Priya S. Kishnani
Pediatrics
Elite in Glycogen Storage Disease Type 3
Dr. Priya S. Kishnani
Pediatrics

Duke Health Integrated Practice Inc

40 Duke Medicine Cir, 
Durham, NC 
919-684-8111
Languages Spoken:
English
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Accepting New Patients

Priya Kishnani is a Pediatrics provider in Durham, North Carolina. Dr. Kishnani is rated as an Elite provider by MediFind in the treatment of Glycogen Storage Disease Type 3. Her top areas of expertise are Pompe Disease, Glycogen Storage Disease Type 3, Hypophosphatasia (HPP), Glycogen Storage Disease Type 9, and Splenectomy. Dr. Kishnani is currently accepting new patients.

Elite in Glycogen Storage Disease Type 3
Giuseppe Ronzitti
Elite in Glycogen Storage Disease Type 3
Giuseppe Ronzitti
Evry, FR 

Giuseppe Ronzitti practices in Evry, France. Mr. Ronzitti is rated as an Elite expert by MediFind in the treatment of Glycogen Storage Disease Type 3. His top areas of expertise are Crigler-Najjar Syndrome, Rotor Syndrome, Glycogen Storage Disease Type 3, Pompe Disease, and Liver Transplant.

 
 
 
 
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Elite in Glycogen Storage Disease Type 3
Amira Mili
Elite in Glycogen Storage Disease Type 3
Amira Mili
Sousse, TN 

Amira Mili practices in Sousse, Tunisia. Ms. Mili is rated as an Elite expert by MediFind in the treatment of Glycogen Storage Disease Type 3. Her top areas of expertise are Glycogen Storage Disease Type 3, Primary Lateral Sclerosis, and Choroideremia.

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What are the latest Glycogen Storage Disease Type 3 Clinical Trials?
French Observatory for Patients with Type 3 Glycogenosis
French Observatory for Patients with Type 3 Glycogenosis
Enrollment Status: Recruiting
Publish Date: September 27, 2024

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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Who are the sources who wrote this article ?

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