Glycogen Storage Disease IV

Diagnosis and Testing

How do I get tested for glycogen storage disease IV?

Glycogen storage disease type IV (GSD IV) can be diagnosed with a blood test that looks for changes in the GBE1 gene or with a biopsy of the affected liver, muscle or skin that looks for the abnormally branched glycogen. Testing that looks at the activity of the GBE protein can also suggest the diagnosis of GSD IV, but testing of the GBE1 gene is recommended for confirmation.

SOURCE: Emory University - Department of Human Genetics in collaboration with ThinkGenetic • https://www.thinkgenetic.com/diseases/glycogen-storage-disease-iv/diagnosis-testing/4778 • DATE UPDATED: 2016-07-20

References

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