Glycogenosis

Glycogenosis, also known as glycogen storage disease (GSD), refers to a group of rare genetic disorders characterized by defects in the enzymes responsible for synthesizing, storing, or breaking down glycogen. Glycogen is the primary storage form of glucose in the body, mainly found in the liver and muscles. When these enzymes are deficient, glycogen can accumulate abnormally or be unavailable for use, leading to various health problems.

There are numerous types of glycogenosis, each caused by a specific enzyme deficiency and affecting different organs or tissues. Common symptoms can include hypoglycemia (low blood sugar), particularly after fasting, liver enlargement, muscle weakness, and impaired growth. The severity of symptoms varies greatly depending on the specific type of GSD and the extent of enzyme deficiency. Diagnosis typically involves blood tests to measure enzyme activity, genetic testing, and sometimes a liver biopsy. Treatment strategies are aimed at managing symptoms and preventing complications. This often includes frequent small meals, a cornstarch-based diet to maintain blood glucose levels, and avoiding prolonged periods without food. Regular medical monitoring is crucial to manage the condition effectively.