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.

 


 

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.

 

Glycogen Storage Disease Type IV

Also known as Andersen disease or brancher enzyme deficiency.

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. 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.

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.

 






 

Glycogen Storage Disease Type IV

Also known as Andersen disease or brancher enzyme deficiency.

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. 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.

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.