15th April 2014

International Pompe Day

Press Release

 

Pompe Update

Healthcare at Home

Deliveries Statement

 

GSD Giant 2014 

Annual cyclo-sportive.

7th September 2014

Goodwood, West Sussex

104, 76, 44 mile options

 

GSD Giant website
  

 

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.