Understanding GSD 3

Glycogen Storage Disease (GSD) is a rare genetic metabolic disease caused by enzyme deficiencies. Without these enzymes, the body cannot process and store energy properly, which can result in significant health issues and metabolic problems.

When healthy individuals eat, excess sugars that are not immediately used by the body are stored in the liver and muscles as glycogen. When energy is needed, healthy bodies release the stored sugar (glycogen) to provide energy. Individuals with GSD are not able to release that glycogen for the life-sustaining energy they need. In turn, they need an alternative constant source of energy, or their bodies cannot maintain normal blood sugar levels.

The inability to store or to breakdown glycogen into glucose causes blood glucose levels to drop dangerously low. This can result in severe hypoglycemia, seizures, coma and potentially death.

Types of Glycogen Storage Disease.

There are at least 13 types of GSD, all affecting the body’s liver and/or muscles. Overall, GSD affects only 1 in 100,000 newborns, and some types are even rarer. Type 3 is particularly uncommon especially in the United States where it affects only one in one million people.

Daily Management and Treatment.

GSD was almost universally fatal until 1971, when it was discovered that continuous glucose therapy could prevent hypoglycemia and improve derangements in the blood. Nearly all people with GSD use “cornstarch therapy” to maintain safe and healthy blood sugar levels. This involves ingesting raw cornstarch every three to four hours, 24 hours a day, to provide the body with a slow releasing form of glucose. In addition, individuals with GSD must maintain a diet that is extremely low in carbohydrates and sugar.

Symptoms and Challenges.

In infants, low blood sugar levels (hypoglycemia), developmental delays, and failure to thrive are often first signs of GSD. Children will have liver enlargement (swollen belly) and abnormally high levels of glycogen in the liver and muscles.

Many children have difficulty fighting infections, unusually frequent nosebleeds and cardiac hypertrophy (enlarged heart muscle). In adulthood, the liver manifestations of the disease usually subside, but progression to liver scarring (cirrhosis) and malignancy (carcinoma) may occur and muscle disease may worsen. Most signs and symptoms improve significantly with adequate dietary management.

Most challenging is the critical need to live by the clock 24/7 to ensure a dose isn’t missed. For families, this means setting alarms in the middle of the night, traveling with doses close at hand, and relying on a small circle of trusted caregivers.