Type I glycogen storage disease (GSD II) is also called Pompe disease.

Cori disease is a condition in which the body cannot break down glycogen in lysosomes. Glycogen is stored in lysosomes of various tissues.

Hypotonia

Muscular weakness

Failure to thrive

Respiratory distress

Pompe disease occurs when the body lacks the protein (enzyme) that releases glycogen. This causes abnormal amounts of glycogen to build up in certain tissues.

Pompe disease is inherited, which means it is passed down through families. If both parents carry the defective gene related to this condition, each of their children has a 25% chance of developing the disease.

Siblings of patients with pompe disease are at highest risk

The health care provider will perform a physical exam.

There may be signs of:

• Delayed puberty
• Cardiomegaly
• Stunted growth or failure to grow
• Cardiomyopathy
• Muscle weakness

Tests that may be done include:

• Genetic testing
• Liver function test
• Creatine kinase levels
• Lactate dehydrogenase levels
• Urinary glc4
• Acid alpha-glucosidase in fibroblasts

Testing reveals high levels of creatine kinase, liver enzymes, lactate dehydrogenase, urinary glc4 and decreased levels of acid alpha-glucosidase in fibroblasts.

Call your health care provider if you have a family history of glycogen storage disease or symptoms such as hypotonia and muscle weakness.

The treatment options include replacing the deficient enzyme (protein) with synthetic enzyme.

Medical care for (disease name) can be found here.

Genetic counselling may help prevent disease if there is a family history of Pompe disease.

Depending on the age of onset of glycogen storage disease type 2, the prognosis may vary. The prognosis is comparatively better as age of onset increases.

• Cardiomegaly
• Cardiomyopathy
• Respiratory failure
• Respiratory infections
• Cerebral aneurysm