Hers Disease, also known as Glycogen Storage Disease type VI, is a rare genetic disorder that affects the breakdown and storage of glycogen in the body. It is named after the American physician, Dr. Henry Hers, who first described the condition in the 1950s.
Hers Disease is caused by a deficiency of the enzyme liver phosphorylase, which plays a crucial role in glycogen metabolism. This enzyme is responsible for breaking down glycogen into glucose, which is then used as a source of energy by the body. In individuals with Hers Disease, the absence or reduced activity of liver phosphorylase leads to the accumulation of glycogen in various tissues, particularly in the liver and muscle cells.
The buildup of glycogen can cause hepatomegaly (enlarged liver) and hepatocellular adenomas (benign tumors) in affected individuals. Symptoms of Hers Disease often manifest during infancy or early childhood and may include hypoglycemia (low blood sugar), muscle weakness, fatigue, and growth retardation. Some patients may also experience hyperlipidemia (elevated blood lipid levels) or liver dysfunction.
Treatment for Hers Disease primarily aims to manage symptoms and maintain stable blood glucose levels. This can involve dietary modifications, such as frequent meals and snacks rich in complex carbohydrates, as well as regular monitoring of blood glucose levels. In severe cases, medications may be prescribed to help regulate glycogen metabolism.
Although Hers Disease is a lifelong condition, early diagnosis and proper management can significantly improve the quality of life for affected individuals. Regular follow-up visits with healthcare professionals, including genetic counselors, can be beneficial in monitoring symptoms and providing ongoing support.
