Understanding glycogen storage disease

By • Published: November 9th, 2009
Category: Health in a Heartbeat

For most people, the body works like this: You eat food. Your body turns that food into the sugar glucose. The body uses what it needs and banks the rest, eventually converting this stored sugar into energy you use throughout the day.

But for a fraction of the population, storing and using energy from food doesn’t happen this way. And unfortunately because this inherited condition is rare, many children born with it are misdiagnosed and don’t get the treatments they need.

Glycogen storage disease occurs in about one in one-hundred-thousand people in the United States. There are several forms of the disease, but basically, people who have it can’t access the sugar their bodies store. Why? They lack the enzymes that convert stored sugar, called glycogen, back to the body’s mainstay, glucose.

This causes low blood sugar and spells big trouble for organs that store glycogen, namely the liver and kidneys. If the disease is left untreated, it could lead to organ failure.

The most common form of the disease, type 1, can actually be managed with precise doses of cornstarch, which helps keep blood sugar stable. Before this treatment was discovered, most people with this disease rarely lived past early adulthood.

Recently, researchers at the University of Florida made a breakthrough that could one day help children with this disease. The scientists successfully used gene therapy to treat a dog with G-S-D.

Although the disease is rare, children fare better the earlier they are diagnosed. So, if you suspect a problem, talk to your doctor or seek a specialist. As they say, knowledge is power.