Glycogen is one of the crucial substances for energy storage in the body. When the body requires additional energy that is not readily available in the blood, it breaks down glycogen into sugar, providing fuel for energy production. Glycogen Storage Diseases (GSDs) are a group of genetic disorders in which the essential enzyme for either glycogen synthesis or breakdown is defective, leading to an inability to regulate blood sugar and energy balance. Additionally, due to enzyme deficiencies, there can be an accumulation of glycogen or glycogen-like molecules in the liver, causing liver dysfunction. There are over 10 different forms of GSD, categorized based on the specific enzyme deficiency.
Symptoms of GSD vary according to the deficient enzyme. As glycogen is primarily stored in the liver and muscles, these organs are most affected by the disease. The heart and lungs can also be affected.
Symptoms can include low blood sugar levels, enlarged liver and spleen, growth impairment, and poor muscle development. The impact on the liver varies depending on the form of the disease. Some forms have minimal long-term effects on the liver, while others can progress rapidly to cirrhosis and liver failure.
Certain forms of GSD are easier to manage than others. The main treatment approach focuses on maintaining normal blood sugar levels throughout the day through careful dietary control. Nighttime feeding through a feeding tube might be necessary. Clinical management also involves monitoring for complications and providing treatment when needed. By effectively controlling blood sugar levels, many aspects of the disease can be mitigated, allowing the affected child to lead a long and healthy life.