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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
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

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

The Human Phenotype Ontology provides the following list of signs and symptoms for Glycogen storage disease type 3. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms.

Signs and Symptoms Approximate number of patients (when available)
Abnormality of immune system physiology 90%
Abnormality of lipid metabolism 90%
Cognitive impairment 90%
Full cheeks 90%
Hypoglycemia 90%
Short stature 90%
Myopathy 50%
Autosomal recessive inheritance -
Broad nasal tip -
Cardiomyopathy -
Deeply set eye -
Depressed nasal bridge -
Distal amyotrophy -
Elevated hepatic transaminases -
Elevated serum creatine phosphokinase -
Hepatic fibrosis -
Hepatomegaly -
Hyperlipidemia -
Malar flattening -
Midface retrusion -
Muscle weakness -
Ventricular hypertrophy -

Last updated: 9/2/2014

The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature.

The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined.

Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.


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.