type IV glycogen storage disease
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.
Last reviewed 08/2021