The AGSD-UK 2015 conference was a great success:

I can't thank you and the AGSD-UK team enough for the superb organisation of the conference this year! The workshops and range of speakers was fantastic. It was so good to meet the key physicians who are helping with the condition. Another incredible outcome of the conference was that our daughter made two friends the same age as her whom we intend to meet with and to keep in contact with. As the condition is rare it is invaluable that she has friends to share her struggles with. It is also great that my husband and I now have friends who are GSD parents too! What a fantastic thing you do - thank you so much, from all of us!
– Victoria

 

Glycogen Storage Disease Type III

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.

Type III summary
Symptoms Swollen abdomen, low blood sugars on fasting, growth delayed during childhood.
Secondary symptoms Problems with muscle weakness.
Treatment Regular feeding, including overnight, and management of associated conditions.
Outlook Variable depending on disease severity.

 

Coordinator

The Coordinator for Type III is Esther James, who has GSD III herself. You can contact Esther by email on type3@agsd.org.uk.