15th April 2015

International Pompe Day

 

Pompe Update

Healthcare at Home

Deliveries Statement

 

GSD Giant 2015 

Annual cyclo-sportive.

6th September 2015

The Petersfield School

100, 64, 32 mile options

 

GSD Giant website
  

 

Glycogen Storage Disease Type IV

Also known as Andersen disease or brancher enzyme deficiency.

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.

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