Glycogen storage disease due to glycogen debranching enzyme deficiency

Other Names: 

Amylo-1,6-glucosidase deficiency; Cori disease; Cori-Forbes disease; Forbes disease; GDE deficiency; GSD due to glycogen debranching enzyme deficiency; GSD type 3; GSDIII; Glycogen storage disease type 3; Glycogen storage disease type III; Glycogenosis due to glycogen debranching enzyme deficiency; Glycogenosis type 3; Glycogenosis type III; Limit dextrinosis

Summary

Glycogen storage disease due to glycogen debranching enzyme deficiency (GSDIII) is an inherited disorder caused by the buildup of glycogen in the body's cells. This buildup impairs the function of certain organs and tissues, especially the liver and muscles. Symptoms typically begin in infancy and may include hypoglycemia, hyperlipidemia (excess of fats in the blood), and elevated blood levels of liver enzymes; later symptoms may include hepatomegal and chronic liver disease (cirrhosis). Some individuals have short stature and noncancerous (benign) tumors called adenomas in the liver. GSDIII is cause by genetic changes in the AGL gene and is inherited in an autosomal recessive manner. GSDIII is divided into types IIIa, IIIb, IIIc, and IIId. Types IIIa and IIIc mainly affect the liver and muscles, and GSD types IIIb and IIId typically affect only the liver.

About Glycogen storage disease due to glycogen debranching enzyme deficiency

Many rare diseases have limited information. Currently, GARD aims to provide the following information for this disease:

• Population Estimate:Fewer than 50,000 people in the U.S. have thisdisease.
• Symptoms:May start to appear as an Infant and as a Child.
• Cause:This disease is caused by a change in the genetic material (DNA).
• Organizations:Patient organizations are available to help find a specialist, or advocacy and support for this specific disease.
• Categories:Inherited Metabolic Diseases Genetic Diseases Neurological Diseases Gastrointestinal Diseases

Genetic Mutations

Glycogen storage disease due to glycogen debranching enzyme deficiency is caused by genetic mutations, also known as pathogenic variants. Genetic mutations can be hereditary, when parents pass them down to their children, or they may occur randomly when cells are dividing. Genetic mutations may also result from contracted viruses, environmental factors, such as UV radiation from sunlight exposure, or a combination of any of these. Learn more about genetic diseases from the National Library of Medicine (NLM).

If you suspect you may have this disease, you may want to start collecting your family health history. Information such as other family members who have had similar symptoms, when their/your symptoms first appeared, or exposures to any potential disease-causing environmental factors should be discussed with your medical team. This tool from the Surgeon General can help you collect your family health history.

Autosomal Recessive

Autosomal means the gene involved is located on one of the numbered chromosomes. Recessive means that a child must inherit two copies of the mutated gene, one from each biological parent, to be affected by the disease. A carrier is a person who only has one copy of the genetic mutation. A carrier usually doesn't show any symptoms of the disease.

If both biological parents are carriers, there is a 25% their child inherits both copies of the mutated gene and is affected by the disease. Additionally, there is a 50% chance their child inherits only one copy of the mutated gene and is a carrier.

Learn more about inheritance patterns from the National Library of Medicine (NLM).

When Do Symptoms of Glycogen storage disease due to glycogen debranching enzyme deficiency Begin?

Symptoms of this disease may start to appear as an Infant and as a Child.

The age symptoms may begin to appear differs between diseases. Symptoms may begin in a single age range, or during several age ranges. The symptoms of some diseases may begin at any age. Knowing when symptoms may have appeared can help medical providers find the correct diagnosis.

Symptoms

• Full Cheeks
  Synonym: Apple Cheeks
  Synonym: Big Cheeks
  Synonym: Full Cheeks
  Synonym: Increased Size of Cheeks
  Synonym: Large Cheeks
• Immunodeficiency
  Synonym: Decreased Immune Function
  Synonym: Immune Deficiency
• Intellectual Disability, Mild
  Synonym: Intellectual Disability, Mild
  Synonym: Mental Retardation, Borderline-Mild
  Synonym: Mild and Nonprogressive Mental Retardation
  Synonym: Mild Mental Retardation
• Myopathy
  Synonym: Muscle Tissue Disease
  Synonym: Myopathic Changes
• Short Stature
  Synonym: Decreased Body Height
  Synonym: Height Less Than 3rd Percentile
  Synonym: Short Stature
  Synonym: Small Stature
  Synonym: Stature below 3rd Percentile