What is Andersen’s Disease?
Andersen’s Disease, also known as Glycogen Storage Disease Type IV (GSD IV), is a rare inherited metabolic disorder that belongs to the group of glycogen storage diseases. It is caused by a deficiency of the enzyme amylo-(1,4→1,6)-transglucosidase (glycogen branching enzyme). As a result, the body accumulates abnormal glycogen with long, unbranched chains, resembling amylopectin.
This abnormal glycogen is deposited in the liver, heart, and other tissues, leading to fibrosis, cirrhosis, and organ dysfunction. The disease most often presents in childhood with severe liver involvement.
Enlarged liver (hepatomegaly) in the first years of life
Growth and developmental delay
Weakness, fatigue
Progressive development of cirrhosis and portal hypertension
Ascites (fluid in the abdomen), esophageal varices
In some cases, heart and muscle involvement (cardiomyopathy, muscle weakness)
Yes. It is inherited in an autosomal recessive manner, meaning that both parents are carriers of the defective gene, and the child becomes affected only if they inherit two copies.
No specific medication is available
Dietary therapy may help, but it does not stop the progression of cirrhosis
The only radical treatment is liver transplantation, which can significantly improve prognosis
It is a serious condition: without treatment, most children with the classic form die in early childhood (before age 5) due to liver failure. In rare cases, later-onset or milder forms may occur with predominant muscle or heart involvement, but the classic type is severe.
Clinical signs (hepatomegaly, growth delay, portal hypertension)
Biochemical tests (impaired liver function, anemia, low albumin)
Liver biopsy — shows abnormal glycogen and fibrosis
Genetic testing — confirms mutations in the GBE1 gene, which encodes the glycogen branching enzyme
Liver: cirrhosis, liver failure, portal hypertension
Heart: cardiomyopathy
Skeletal muscles: muscle weakness, atrophy
Nervous system: possible neurological disorders in later-onset forms
No. The only radical treatment is liver transplantation, which addresses the liver form of the disease but does not affect the rare muscle or cardiac variants.
At the first signs of liver enlargement or growth delay, consult a metabolic disease specialist.
Follow dietary and nutritional recommendations; while they do not cure the disease, they may improve the condition.
Regularly monitor your child for complications (bleeding, ascites, portal hypertension).
If the diagnosis is confirmed, the most effective treatment and the child’s best chance of survival is liver transplantation.
Genetic counseling is important when planning future pregnancies.
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