Glycogen storage disease type IX Glycogen storage disease type IX Glycogen storage disease type IX is a hereditary deficiency of glycogen phosphorylase kinase B that affects the liver and skeletal muscle tissue. It is inherited in an X-linked or autosomal recessive manner. The signs and symptoms in glycogen storage disease type IX include: Most of these signs and symptoms diminish as adulthood sets in. Glycogen storage disease type IX can be inherited via: The diagnosis of glycogen storage disease IX consists of the following: There are two types of this inherited condition, "glycogen storage disease IXa1" and "glycogen storage disease IXa2" that affect the liver
Glycogen synthase binding site suggest that the mechanism for synthesis is similar in glycogen synthase and glycogen phosphorylase. Glycogen synthase catalyzes the conversion of the glucosyl (Glc) moiety of uridine diphosphate glucose (UDP-Glc) into glucose to be incorporated into glycogen via an α(1→4) glycosidic bond. However, since glycogen synthase requires an oligosaccharide primer as a glucose acceptor, it relies on glycogenin to initiate "de novo" glycogen synthesis. In a recent study of transgenic mice, an overexpression of glycogen synthase and an overexpression of phosphatase both resulted in excess glycogen storage levels. This suggests that glycogen synthase plays an important biological role in