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Glycogenosis type IV

Last reviewed dd mmm yyyy. Last edited dd mmm yyyy

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This is a glycogen storage disease that is characterized by the formation of abnormally structured glycogen in the liver. This condition is caused by a defect of the 1,4-alpha-glucan branching enzyme.

Diagnosis is based on biochemical assay of appropriate tissues (leucocytes, liver, muscle).

This condition usually results in death within the first three years of life.


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