Glycogenosis Type VI, also known as Hers disease, is a rare genetic disorder that affects the metabolism of glycogen in the body. Glycogen is a complex carbohydrate that is stored in the liver and muscles to provide energy when needed.
In individuals with Glycogenosis Type VI, there is a deficiency of the enzyme liver phosphorylase, which is responsible for breaking down glycogen into glucose. This deficiency leads to the accumulation of excessive glycogen in the liver, resulting in hepatomegaly (enlarged liver). Unlike other forms of glycogen storage diseases, the excessive glycogen in Glycogenosis Type VI is stored without alteration, and there is no associated muscle involvement.
Symptoms of Glycogenosis Type VI usually appear during infancy or early childhood and may include an enlarged liver, low blood sugar levels (hypoglycemia), poor growth, difficulty gaining weight, and elevated levels of lipids in the blood. Affected individuals may also experience symptoms such as fatigue, weakness, and irritability. In some cases, hepatomegaly may lead to liver dysfunction.
Diagnosis of Glycogenosis Type VI involves thorough clinical examination, blood tests to assess glucose and enzyme levels, liver biopsy, and genetic testing to confirm the specific mutation causing the condition.
The treatment for Glycogenosis Type VI typically involves a carefully managed diet, including frequent meals containing carbohydrates to prevent low blood sugar. The diet may be supplemented with uncooked cornstarch to provide a slow and steady release of glucose. Regular monitoring of liver function and growth is necessary to manage the condition effectively. In severe cases, liver transplantation may be considered as a treatment option.
