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HARRISON FORD IN GSD FILM Extraordinary Measures starring Harrison Ford, based on the book "The Cure" it tells the story of John Crowley and his part in funding the development of an enzyme-replacement therapy for people with Pompe Disease. Two of John's children suffer from Pompe (GSD Type II). UK release 26th February.
MCARDLE HANDBOOK PROJECT Thanks to the Vodafone Foundation Kathryn Wright is preparing a Handbook for people with McArdle's. More details here.
Also known as Hers disease or liver phosphorylase deficiency.
GSD VI is one of the least severe forms of GSD. In most individuals apart from liver enlargement there are few other problems. There is usually no tendency to low blood sugar, the liver becomes smaller with age and children grow normally. GSD VI has autosomal recessive inheritance.
There used to be a GSD Type VIII resulting from lack of phosphorylase-b-kinase activity; however this has now be reclassified as a subtype of GSD VI. Symptoms are relatively mild: hepatomegaly, increased liver glycogen, and decreased leukocyte phosphorylase are present. Liver shrinkage occurs in response to glucagon. It has been described as X-linked recessive.