Glycogen storage disease ixa
What's glycogen storage disease IXa?
Glycogen storage disease type IXa (GSD IXa) is a genetic condition where your body cannot get energy from glycogen stored in the liver and muscles. Typically our bodies break down the food we eat into energy. Some of this energy gets used right away, while the rest gets stored as glycogen in our muscles and liver for later use. People with GSD IXa have a genetic change which makes their bodies unable to get the extra, stored glycogen out of their liver and muscles. Instead of acting as an immediate source of energy between meals, the glycogen builds up in the liver and muscles and causes the signs and symptoms of glycogen storage disease IXa.
Children with glycogen storage disease type IXa may have an enlarged liver (known as hepatomegaly), slightly delayed motor skills and low blood sugar. Usually, the symptoms of GSD IXa improve as a child grows.
SOURCE: Emory University - Department of Human Genetics in collaboration with ThinkGenetic • https://www.thinkgenetic.com/diseases/glycogen-storage-disease-ixa/overview/5340 • DATE UPDATED: 2016-08-03