Glycogen storage disease type XIII (GSD-XIII) is an autosomal recessive disorder of glycogen metabolism. GSD-XIII is caused by mutations in the ENO3 gene, which encodes the muscle beta-enolase. The typical presentations are exercise intolerance and myalgias.
Category
Inherited metabolic disorder
Brite
Human diseases in ICD-11 classification [BR:br08403]
05 Endocrine, nutritional or metabolic diseases
Metabolic disorders
Inborn errors of metabolism
5C51 Inborn errors of carbohydrate metabolism
H01953 Glycogen storage disease type XIII
Pathway-based classification of diseases [BR:br08402]
Carbohydrate metabolism
nt06017 Glycogen metabolism
H01953 Glycogen storage disease type XIII
