Glycogen storage disease type VI (GSD-VI), also known as Hers disease, is an autosomal recessive disorder of glycogen metabolism. GSD-VI is caused by mutations in the PYGL gene, which encodes liver glycogen phosphorylase. It manifests in infants, primarily with hepatomegaly and growth retardation.
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
H01944 Glycogen storage disease type VI
Pathway-based classification of diseases [BR:br08402]
Carbohydrate metabolism
nt06017 Glycogen metabolism
H01944 Glycogen storage disease type VI
