Glycogen storage disease type XV(GSD-XV) is an autosomal recessive disorder of glycogen metabolism. GSD-XV is caused by mutations in the GYG1 gene, which encodes the glycogenin. The typical presentations are muscle weakness and cardiomyopathy.
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
H01955 Glycogen storage disease type XV
Pathway-based classification of diseases [BR:br08402]
Carbohydrate metabolism
nt06017 Glycogen metabolism
H01955 Glycogen storage disease type XV
