Glycogen Storage Disease (GSD): Classifications & Treatment

In the United States, more than 40,000 individuals suffer from an inherited disorder known as glycogen storage disease. As a term that encompasses a variety of origins, GSD, ultimately, leads to the same outcome; impaired mobility.

Glycogen storage disease, also known as GSD, is a metabolic disorder associated with complications of the liver and the muscle groups. When GSD is present, the individual who suffers from the condition will result in excess accumulation of glycogen in the body, resulting in complications of the muscle groups, resulting in extreme weakness, and inflammation or enlargement of the liver.

When suffering with a glycogen storage disease, the daily symptoms may appear as fatigue, a chronic sensation of hunger and psychological complications associated with hunger, including irritability, depression and impaired cognitive function.

To diagnose a glycogen storage disease, the healthcare professional will run a variety of blood tests to determine what enzyme malady exists. Once this enzyme complication is identified, the GSD is then classified into a subtype of I to VII, depending on the enzyme complication present.

In most cases, GSD is managed with dietary restrictions and modifications. Because the GSD complication results in the abnormal processing of glycogen storage, the person who suffers with GSD can usually be treated with glycogen infusion through the stomach by way of a drip tube in the nose, or with a surgical opening directly in the stomach. In the advanced age and advanced cases of GSD, the patient may require a liver transplant.

Without much in terms of treatment, many children who suffer from a glycogen storage disease will generally not reach adulthood. Even with the appropriate diet and glycogen infusion, the liver and kidneys are often compromised to such an extent that the child's body can simply no longer support the complications. For those who live into adulthood, the pain associated with GSD can be overwhelming; ranging from muscle cramping to kidney and liver pain.

As with any disorder associated with enzyme dysfunction, the key to managing the disease, even when no cure is available, lies in the early detection and management through direction of a healthcare professional who specializes in that particular disease. Since GSD is a metabolic disorder, the healthcare professional should recommend a dietary program to include glycogen infusion, coupled with regular and persistent management of the secondary health complications of the muscles, liver, kidneys, stomach and even the psychological complications associated with depression, anxiety and general irritability. Without this appropriate care, the GSD sufferer may experience a significant reduction in the expected life span.