Glycogen-storage disease (GSD) type III (GSD III) is
an autosomal recessive inborn error of metabolism
caused by loss of function mutations of the glycogen
debranching enzyme (Amylo-1,6-glucosidase [AGL])
gene, which is located at chromosome band 1p21.2.1
GSD III is characterized by the storage of structurally
abnormal glycogen, termed limit dextrin, in both liver,
skeletal and cardiac muscle with greater variability in
resultant organ dysfunction.2