MM Disease/ Cori Disease

Glycogen Storage Disease Symptoms

What is it?

Glycogen storage disease type III (also known as GSDIII or Cori disease) is an inherited disorder caused by the buildup of a complex sugar called glycogen in the body's cells. The accumulated glycogen is structurally abnormal and impairs the function of certain organs and tissues, especially the liver and muscles.

GSDIII is divided into types IIIa, IIIb, IIIc, and IIId, which are distinguished by their pattern of signs and symptoms. GSD types IIIa and IIIc mainly affect the liver and muscles, and GSD types IIIb and IIId typically affect only the liver. It is very difficult to distinguish between the types of GSDIII that affect the same tissues. GSD types IIIa and IIIb are the most common forms of this condition.

Beginning in infancy, individuals with any type of GSDIII may have low blood sugar (hypoglycemia), excess amounts of fats in the blood (hyperlipidemia), and elevated blood levels of liver enzymes. As they get older, children with this condition typically develop an enlarged liver (hepatomegaly). Liver size usually returns to normal during adolescence, but some affected individuals develop chronic liver disease (cirrhosis) and liver failure later in life. People with GSDIII often have slow growth because of their liver problems, which can lead to short stature. In a small percentage of people with GSDIII, noncancerous (benign) tumors called adenomas may form in the liver.

How common is this type of disease?

The incidence of GSDIII in the United States is 1 in 100,000 individuals. This condition is seen more frequently in people of North African Jewish ancestry; in this population, 1 in 5,400 individuals are estimated to be affected.

GSDIIIa is the most common form of GSDIII, accounting for about 85 percent of all cases. GSDIIIb accounts for about 15 percent of cases. GSD types IIIc and IIId are very rare, and their signs and symptoms are poorly defined. Only a small number of affected individuals have been suspected to have GSD types IIIc and IIId.

What are the symptoms?

Glycogen Storage Disease Symptoms

The symptoms of a glycogen storage disease depend on its type. The following is a list of common glycogen storage disease symptoms:

• Low blood sugar
• Enlarged liver
• Slow growth
• Muscle cramps

Symptoms of specific types of glycogen storage diseases include:

Type I - Von Gierke Disease

• Enlarged liver and kidneys
• Low blood sugar
• High levels of lactate, fats, and uric acid in the blood
• Impaired growth and delayed puberty
• Bone thinning from osteoporosis
• Increased mouth ulcers and infection

Type II - Pompe's Disease

• Enlarged liver and heart
• In severe cases, muscle weakness and heart problems develop
• In severe cases, infants may suffer heart failure by the age of 18 months
• Milder forms of type II may not cause heart problems

Type III - Cori's Disease

• Swollen abdomen due to an enlarged liver
• Growth delay during childhood
• Low blood sugar
• Elevated fat levels in blood
• Possible muscle weakness

Type IV - Anderson's Disease

• Growth delay in childhood
• Enlarged liver
• Progressive cirrhosis of the liver (which may lead to liver failure)
• May affect muscles and heart in late-onset type

Type V - McArdle's Disease

• Muscle cramps during exercise
• Extreme fatigue after exercise
• Burgundy-colored urine after exercise

Types VI, IX - Hers' Disease

• Liver enlargement occurs, but diminishes with age
• Low blood sugar

Type VII- Tarui's Disease

• Muscle cramps with exercise
• Anemia

Type VIII

• Muscle weakness
• Anemia
• Increased levels of uric acid

Different types of this disease?

• Glycogen Storage Disease Type I 
• Glycogen Storage Disease Type II 
• Glycogen Storage Disease Type III 
• Glycogen Storage Disease Type IV
• Glycogen Storage Disease Type V
• Glycogen Storage Disease Type VI
• Glycogen Storage Disease Type VII 
• Glycogen Storage Disease Type IX 
• Glycogen Storage Disease Type 0

When should you see a doctor?

As soon as you start to feel any of the symptoms on the list, listed above 

Why does this occur? 

Glycogen storage disorders are a group of inherited diseases. They result from a problem with one of the proteins (known as enzymes) involved in the conversion of glucose to glycogen, or the breakdown of glycogen back into glucose. They mostly tend to affect your liver and muscles. Most are diagnosed in childhood. Symptoms include weakness, tiredness and low blood sugar levels. Newer treatment possibilities provide hope for an improved outlook (prognosis). Most people with a glycogen storage disorder respond well to treatment. However type II (infantile Pompe's disease) can be difficult to treat and can affect life expectancy.