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 IV

Also known as Andersen disease, brancher enzyme deficiency or Adult Polyglucosan Body Disease

Several neuromuscular variants of Andersen disease have been described. These may be evident at birth, in late childhood, or adulthood. Andersen disease is inherited in an autosomal recessive fashion.

Deficient activity of the glycogen-branching enzyme is the cause of GSD Type IV. It results in accumulation of abnormal glycogen in the liver, muscle and other tissues. In the perinatal variant usually symptoms become apparent in the first few months of of a baby's life. Such signs typically include failure to thrive - slow growth and failure to gain weight at the expected rate. There may be an abnormally enlarged liver and spleen. There is typically progressive liver scarring and liver failure, leading to life-threatening complications, but in some rare cases progressive liver disease does not develop.

GSD IV is a very severe but rare disorder. No treatment apart from liver transplantation has been found to prevent progression of the disease. Most children with this condition die before two years of age.

 

Adult Polyglucosan Body Disease (APBD)

Patients with adult polyglucosan body disease APBD have deficient glycogen-branching enzyme activity, diffuse CNS and peripheral nervous system dysfunction.

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