Association for Glycogen Storage Disease

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What is GSD?
Type IV

Type IV Glycogen Storage Disease

Synonyms:
Brancher Deficiency, Andersen Disease, Amylopectinosis, Adult Polyglucosan Body Disease (APBD)

In Type IV GSD there is not an increased amount of glycogen in the tissues, as in other forms of GSD. Instead, the glycogen that does accumulate has very long outer branches, because there is a genetic deficiency of the branching enzyme. This structural abnormality of the glycogen is thought to trigger the body's immune system, causing the body to actually attack the glycogen and the tissues in which it is stored. The result is tremendous scarring (cirrhosis) of the liver as well as other organs, such as muscle. The typical symptomatology of this disease is the result of the scarring process.

A baby with the typical Type IV GSD appears to be normal at birth. The first indication of a problem is a failure to thrive. The rate of growth and mental progress of the baby stops at a certain point and does not continue normally. The liver and spleen enlarge, there is little weight gain, and muscles develop poor tone. The course of the disease is one of progressive cirrhosis and associated problems. Death typically occurs by five years of age.

There have been a few older patients seen with severe muscle problems, who are found to have abnormal glycogen of the type associated with this type of glycogen storage disease.

Treatment for Type IV glycogen storage disease has been aimed at the failing liver, which has been symptomatic. Several patients have had liver transplants; however after transplantation, muscle and heart disease may still be a problem.

Links

Andersen Disease from National Organization for Rare Disorders [NORD]

GSD Type IV from Online Mendelian Inheritance in Man searchable database [OMIM]

Glycogen Branching Enzyme from OMIM

GSD Type IV from GeneReviews

Type IV GSD from eMedicine/Medscape

Glycogenosis Type IV from NeuroHelp [The University of Oklahoma College of Medicine]

Polyglucosan Body Disease [APBD] from OMIM

Adult Polyglucosan Body Disease Research Foundation

Guidelines

"Diagnosis and management of glycogen storage disease type IV, including adult polyglucosan body disease: A clinical practice resource"

About the association

The Association for Glycogen Storage Disease - AGSD - was established in 1979 in order to create an organization which would be a focus for parents of and individuals with glycogen storage disease (GSD) to communicate, share their successes and concerns, share useful findings, provide support, create an awareness of this condition for the public, and to stimulate research in the various forms of glycogen storage diseases.

This website provides basic information about the glycogen storage diseases. The information is intended to be of use to people affected by one of the glycogen storage diseases, their families, and other interested parties.

Some forms of GSD cause little in the way of illness, while others are life threatening. Included in this site is a description of the general symptoms, associated problems, current treatment, and long-term outcome for the most commonly diagnosed glycogen storage diseases. It does not do justice to the difficulty patients and their families' experience, and their deep desire for improved forms of treatment or ultimately total correction.

Contact

Association for Glycogen Storage Disease

1542 Flammang Dr. PMB 1004
Waterloo Iowa 50702

info@agsdus.org