Glycogen storage disease type X (GSD-X) is an autosomal recessive disorder of glycogen metabolism. GSD-X is caused by mutations in the PGAM2 gene, which encodes the muscle phosphoglycerate mutase. The typical presentations are exercise intolerance, cramps, and myoglobinuria.
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
H01951 Glycogen storage disease type X
Pathway-based classification of diseases [BR:br08402]
Carbohydrate metabolism
nt06017 Glycogen metabolism
H01951 Glycogen storage disease type X
