Also known as Cori disease or debrancher enzyme deficiency.
GSD III is a rare disease of variable severity affecting primarily the liver, heart and skeletal muscle. It is caused by deficient activity of glycogen debranching enzyme, which is a key enzyme in the breakdown of glycogen.
The condition has a wide clinical spectrum. Children are often diagnosed because they have been noticed to have a swollen abdomen due to a very large liver. Patients may also have low blood sugar, a high level of fats in the blood and delayed growth. Symptoms related to liver disease and progressive cardiac and skeletal muscle involvement vary in age of onset, rate of disease progression and severity.
The Coordinator for Type III is Esther James, who has GSD III herself. You can contact Esther by email on firstname.lastname@example.org.
Association for Glycogen Storage Disease (UK) LimitedRegistered Charity No 1132271