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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Glycogen storage disease type 3


Other Names for this Disease

  • Amylo-1,6-glucosidase deficiency
  • Cori disease
  • Forbes disease
  • Glycogen debrancher deficiency
  • Limit dextrinosis
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Symptoms

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What are the signs and symptoms of glycogen storage disease type 3?

In infancy, individuals with glycogen storage disease type 3 (GSDIII) may have low blood sugar (hypoglycemia), increased amounts of fats in the blood (hyperlipidemia), and elevated levels of liver enzymes in the blood.[1] Hypoglycemia may cause occasional seizures in some individuals.[2] As they age, children usually develop an enlarged liver (hepatomegaly), which can cause the abdomen to protrude. Liver size may return to normal during adolescence, but some affected individuals develop chronic liver disease and subsequent liver failure years later. Individuals often have delayed growth due to their liver problems, which can lead to short stature. They may also have difficulty fighting infections, and may experience unusually frequent nosebleeds.  A small percentage of individuals develop benign (non-cancerous) tumors in the liver called adenomas.[1][3]

GSD types IIIa and IIIc typically affect both the liver and muscles, while types IIIb and IIId typically affect only the liver. Individuals with type IIIa may develop myopathy in both the heart and skeletal muscles later in life. The first signs and symptoms of this are typically poor muscle tone (hypotonia) and mild myopathy in early childhood. The myopathy may become severe by early to mid-adulthood.[1]
Last updated: 2/13/2012

References
  1. Glycogen storage disease type III. Genetics Home Reference. September 2010; http://ghr.nlm.nih.gov/condition/glycogen-storage-disease-type-iii. Accessed 2/13/2012.
  2. Roseline Froissart. Glycogen debranching enzyme deficiency. Orphanet. September 2009; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=366. Accessed 2/13/2012.
  3. Forbes Disease. NORD. October 12, 2007; http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/396/viewAbstract. Accessed 2/13/2012.


Other Names for this Disease
  • Amylo-1,6-glucosidase deficiency
  • Cori disease
  • Forbes disease
  • Glycogen debrancher deficiency
  • Limit dextrinosis
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.