Glycogen storage disease ixa

Changes in the PHKA2 gene cause glycogen storage disease type IXa. Typically this gene tells our body how to break down glycogen, so it can be released from storage and used as energy in between meals. When there is a change in this gene, our body cannot take glycogen out of storage, so instead it gathers and builds up in liver cells where our glycogen is stored. This leads to the signs and symptoms of glycogen storage disease type IXa.