Andersen Disease have described by American pediatrician and pathologist Dorothy Hansine Andersen in year 1956. This disease have known as glycogen storage disease (GSD) type IV or Andersen’s Disease also. There is a deficiency of branching enzyme named alpha-1,4-glucan enzyme on GBE1 gene on chromosome 3. A rare glycogen storage disorder; Andersen Disease have reported in 1 of 700.000 peoples. This disease has an autosomal recessive transmission. For this reason it may seem more common in consanguineous marriage. All from 1 of 4 children can affected from this disease. Prenatal diagnosis may done to prevention of complications. Molecular genetic testing from fetal cells can show the genetic defect also.
Infants with this disease may seen normal at birth. They will develop growth retardation in early period, before 1 of age. The most affected organ is liver. All this patients will die due to liver involvement also. Hepatosplenomegaly will seen always in these patients also. Progressive jaundice may seen, because liver involvement. Rarely peripheral nerves will affected also. Because of it, neuromuscular symptoms may evident. Weight loss and hypotonia may develop after. After a while, congestive heart failure may seen. Progressive cirrhosis with accompanying portal hypertension and ascites may seen before death. Esophageal varices will occur due to portal hypertension also.
Andersen Disease is not curative.
For hepatic involvement one treatment option is liver transplantation.
With appropriate diet this disease progress will slow down. Vitamin and protein supplements may helpful also.
physical therapy is beneficial in skeletal myopathy or hypotonia that experience motor developmental delay.
Factors such as glycogen branching enzyme (GBE) activity may helpful but the affects are difference in all patients.
Cardiomyopathy development is a mortal symptoms for this disease, that cardiac transplantation will required. With it, before cardiac transplantation, myopathy, liver failure and treatment of cachexia must performed before this surgical option.
Most children with Andersen disease will die before 2 years of age. If they survive the first year, will develop cirrhosis in age of 3 to 5 years and will die from chronic liver failure. In some mild forms of this disease, patients who survived to the age of 8 years have reported. But, all the infants that survived to 5 years have survived with liver transplantation only.