glycogen storage disease III

A glycogen storage disease that is characterized by an accumulation of abnormal glycogen with short outer chains and that has_material_basis_in homozygous or compound heterozygous mutation in the AGL gene, which encodes the glycogen debrancher enzyme, on chrom

A glycogen storage disease that is characterized by an accumulation of abnormal glycogen with short outer chains and that has_material_basis_in homozygous or compound heterozygous mutation in the AGL gene, which encodes the glycogen debrancher enzyme, on chromosome 1p21.

Signs and symptoms

• Reduced muscle glycogen debrancher enzyme activity
• Elevated circulating creatine kinase activity
• Thin vermilion border
• Short stature
• Hyperlipidemia
• Myopathy
• Distal amyotrophy
• Deeply set eye
• Hepatic fibrosis
• Malar flattening

Also known as: Glycogen storage disease 3; Glycogen storage disease, type III; amylo 1,6 glucosidase deficiency; deficiency of debranching enzyme; deficiency of dextrin