Glycogen Storage Disease Type VI, also known as Hers disease or hepatic glycogen synthase deficiency, is an inherited metabolic disorder characterized by a deficiency of the enzyme glycogen synthase, which plays a crucial role in the formation of glycogen. Glycogen is the primary carbohydrate storage molecule found in the liver and muscles.
In individuals with Glycogen Storage Disease Type VI, there is a reduced ability to produce glycogen in the liver. As a result, affected individuals may experience symptoms such as hepatomegaly (enlarged liver), fasting hypoglycemia (low blood sugar levels), and lethargy. These symptoms are typically observed during infancy or early childhood.
Glycogen Storage Disease Type VI is an autosomal recessive disorder, meaning that individuals inherit two copies of the defective gene, one from each parent. Both males and females are equally affected by this condition.
Diagnosis of Glycogen Storage Disease Type VI involves a combination of clinical evaluation, physical examination, and laboratory testing. Tests such as liver function tests, blood glucose levels, and liver biopsy are conducted to assess the severity of the condition and to rule out other potential causes.
Treatment for individuals with Glycogen Storage Disease Type VI focuses on managing symptoms and preventing complications. This may involve frequent meals and snacks to maintain adequate blood glucose levels, the use of uncooked cornstarch as a slow-releasing carbohydrate source, and in severe cases, liver transplantation.
With proper management and care, individuals with Glycogen Storage Disease Type VI can lead relatively normal lives and achieve optimal growth and development. However, the long-term outlook may vary depending on the severity of symptoms and the response to treatment.
