type IV glycogen storage disease
Last reviewed 08/2021
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.