May also be called: Glycogen Storage Disease (GSD); Dextrinosis
Glycogenosis is a broad term for a group of genetic disorders that cause the abnormal use and storage of glycogen in the body's tissues.
More to Know
Glycogen is a form of glucose (sugar) that is stored in the liver and muscles. When the body needs a quick boost of energy or isn't getting glucose from food, glycogen breaks down and releases glucose into the bloodstream to fuel the cells.
People with glycogenosis aren't able to make or break down glycogen because they either don't have the enzyme (protein) needed to do it, or the enzyme isn't working correctly. As a result, they will have too much or too little glycogen in their tissues. This prevents the body from functioning properly. The liver and muscle are affected most, but the blood, heart, and kidneys also can be affected.
Depending on the type of glycogenosis, symptoms can be mild or life threatening, and range from an enlarged liver and low blood sugar to muscle weakness and heart problems.
Keep in Mind
The outlook for people with glycogenosis is much better today than in the past. Through early diagnosis, dietary therapy, and medication management and enzyme replacement, many are able to live long and healthy lives.
All A to Z dictionary entries are regularly reviewed by KidsHealth medical experts.