McArdle disease is a glycogen storage disease in which the enzyme muscle myophosphorylase is deficient. It is commonly known as glycogen storage disease V. Read more »
Pompe disease is an autosomal recessive lysosomal glycogen storage disease. Mutations in the acid alpha-glucosidase (GAA) gene on chromosome 17q25.2-q25.3 result in abnormal accumulation of glycogen within lysosomes and subsequent lysosomal dysfunction. Read more »