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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Glycogen storage disease type 4


Other Names for this Disease
  • Amylopectinosis
  • Andersen disease
  • Brancher deficiency
  • Cirrhosis, familial, with deposition of abnormal glycogen
  • Glycogen branching enzyme deficiency
More Names
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Symptoms


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What are the signs and symptoms of glycogen storage disease type 4?

The signs and symptoms of glycogen storage disease type 4 (GSD 4) can vary greatly between affected individuals, and several forms of GSD 4 have been described. Most affected individuals have a "classic" form characterized by progressive cirrhosis of the liver, eventually leading to liver failure. In these individuals, signs and symptoms typically begin in infancy and include failure to grow and gain weight appropriately (failure to thrive); enlargement of the liver and spleen (hepatosplenomegaly); abnormal fluid build-up in the abdomen (ascites); and enlargement of veins in the wall of the esophagus (esophageal varices) which may rupture and cause coughing up of blood. Progressive liver disease in affected children can lead to the need for a liver transplant or life-threatening complications by approximately 5 years of age. There have been some reports of affected individuals having nonprogressive liver disease; very mildly affected individuals may not show signs and symptoms of the disease.[1]

There have also been reports of neuromuscular forms of GSD 4, most of which become apparent in late childhood. These may be characterized by skeletal muscle or heart muscle disease (myopathy or cardiomyopathy) caused by the accumulation of glycogen in the muscle tissue. Signs and symptoms in these cases may include muscle weakness or fatigue, exercise intolerance, and muscle wasting (atrophy). Complications with these forms may include heart failure.

A more severe neuromuscular form that is apparent at birth has also been reported; this form may be characterized by generalized edema (swelling cause by fluid); decreased muscle tone (hypotonia); muscle weakness and wasting; joints having fixed positions (contractures); and neurologic involvement, which can cause life-threatening complications early in life.[1]
Last updated: 9/8/2011

References
  1. Marsden D. Andersen Disease (GSD IV). NORD. 2012; http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/394/viewAbstract. Accessed 12/23/2012.