Forbes Disease, also known as Glycogen Storage Disease type III (GSD III), is a rare inherited metabolic disorder that affects the body's ability to process glycogen. It is named after Brian Forbes, the first physician to describe the condition in 1951.
The disease is caused by a deficiency in the enzyme amylo-1,6-glucosidase, which plays a crucial role in breaking down glycogen into glucose. This deficiency leads to the abnormal accumulation of glycogen in various organs and tissues, particularly the liver and muscles.
The symptoms of Forbes Disease typically appear during infancy or early childhood. Common symptoms include enlarged liver (hepatomegaly), low blood sugar levels (hypoglycemia), growth delays, muscle weakness, and fatigue. In severe cases, the disease may also lead to liver cirrhosis or heart disease.
Individuals with Forbes Disease are usually advised to follow a carefully regulated diet that includes frequent meals, high in complex carbohydrates and supplemented with cornstarch. Regular physical activity is also encouraged to help manage the condition and increase glycogen utilization.
Currently, there is no cure for Forbes Disease. Treatment primarily focuses on managing symptoms and preventing complications. Genetic counseling is also recommended for affected individuals and their families to better understand the inheritance patterns and assess the risk of passing the condition to future generations.
In summary, Forbes Disease is a rare genetic disorder characterized by a deficiency in the enzyme amylo-1,6-glucosidase, leading to the abnormal accumulation of glycogen in various organs. It manifests with symptoms such as hepatomegaly, hypoglycemia, growth delays, muscle weakness, and fatigue. Treatment involves regulated diet and physical activity, aimed at managing symptoms and preventing complications.
