Glycogen storage disease type II (patient information)
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Glycogen storage disease type II |
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Where to find medical care for Glycogen storage disease type II? |
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Glycogen storage disease type II On the Web |
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Directions to Hospitals Treating Glycogen storage disease type II |
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Risk calculators and risk factors for Glycogen storage disease type II |
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Anmol Pitliya, M.B.B.S. M.D.[2]
Overview
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.
What are the Symptoms of Pompe disease?
What Causes Pompe disease?
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.
Who is at Highest Risk?
Siblings of patients with pompe disease are at highest risk
Diagnosis
The health care provider will perform a physical exam.
There may be signs of:
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.
When to Seek Urgent Medical Care?
Call your health care provider if you have a family history of glycogen storage disease or symptoms such as hypotonia and muscle weakness.
Treatment Options
The treatment options include replacing the deficient enzyme (protein) with synthetic enzyme.
Where to find Medical Care for Pompe Disease?
Medical care for (disease name) can be found here.
Prevention
Genetic counselling may help prevent disease if there is a family history of Pompe disease.
What to Expect (Outlook/Prognosis)?
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.