Learn About Andersen Disease

What is the definition of Andersen Disease?

Glycogen storage disease type IV (GSD IV) is an inherited disorder caused by the buildup of a complex sugar called glycogen in the body's cells. The accumulated glycogen is structurally abnormal and impairs the function of certain organs and tissues, especially the liver and muscles. There are five types of GSD IV, which are distinguished by their severity, signs, and symptoms.

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What are the causes of Andersen Disease?

Mutations in the GBE1 gene cause GSD IV. The GBE1 gene provides instructions for making the glycogen branching enzyme. This enzyme is involved in the production of glycogen, which is a major source of stored energy in the body. GBE1 gene mutations that cause GSD IV lead to a shortage (deficiency) of the glycogen branching enzyme. As a result, glycogen is not formed properly. Abnormal glycogen molecules called polyglucosan bodies accumulate in cells, leading to damage and cell death. Polyglucosan bodies accumulate in cells throughout the body, but liver cells and muscle cells are most severely affected in GSD IV. Glycogen accumulation in the liver leads to hepatomegaly and interferes with liver functioning. The inability of muscle cells to break down glycogen for energy leads to muscle weakness and wasting.

How prevalent is Andersen Disease?

GSD IV is estimated to occur in 1 in 600,000 to 800,000 individuals worldwide. Type IV accounts for roughly 3 percent of all cases of glycogen storage disease.

Is Andersen Disease an inherited disorder?

This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.

Who are the top Andersen Disease Local Doctors?
Highly rated in

University Hospital Of Copenhagen

Copenhagen, DK 

Charlotte Andersson is in Copenhagen, Denmark. Andersson is rated as an Elite expert by MediFind in the treatment of Andersen Disease. She is also highly rated in 10 other conditions, according to our data. Her top areas of expertise are Andersen Disease, Heart Failure, Stroke, and Heart Attack.

Highly rated in

Northwestern Medicine

Northwestern Medical Group - Neurosciences And Orthopaedics

1000 N Westmoreland Rd 
Lake Forest, IL 60045

Charulatha Nagar is a Neurologist in Lake Forest, Illinois. Dr. Nagar has been practicing medicine for over 33 years and is rated as a Distinguished doctor by MediFind in the treatment of Andersen Disease. She is also highly rated in 18 other conditions, according to our data. Her top areas of expertise are Adult Polyglucosan Body Disease, Andersen Disease, Myasthenia Gravis, and Migraine. She is licensed to treat patients in Illinois. Dr. Nagar is currently accepting new patients.

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Highly rated in

McGill University

12368mcgill University 
Montreal, QC, CA 

Marie-josee Fleury is in Montreal, Canada. Fleury is rated as a Distinguished expert by MediFind in the treatment of Andersen Disease. They are also highly rated in 6 other conditions, according to our data. Their top areas of expertise are Andersen Disease, Syphilis, Optic Neuritis, and Transverse Myelitis.

What are the latest Andersen Disease Clinical Trials?
Pompe & Pain - Observational Study to Assess Musculoskeletal Pain in Late-onset Pompe Disease (LOPD)
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Coordination of Rare Diseases at Sanford
Who are the sources who wrote this article ?

Published Date:updated Last, February

Published By: National Institutes of Health

What are the Latest Advances for Andersen Disease?
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