Glycogen Storage Disease | Diagnosis & Treatment

How is glycogen storage disease diagnosed?

Diagnosis starts with a health history. Your child’s doctor will ask about your child’s symptoms and overall health. The doctor will also do a physical exam and check for signs of an enlarged liver or weak muscles.

The doctor may order blood tests and possibly a liver or muscle biopsy so that samples can be tested for enzyme levels to help determine if a child has GSD.

How is glycogen storage disease treated?

There is currently no cure for GSD. After diagnosis, children with GSD are usually cared for by several specialists, including specialists in endocrinology and metabolism. Specific dietitians with expertise in this disease should be involved.

Depending on what type of GSD your child has, treatment typically focuses on promoting their growth and development and maintaining a healthy level of glucose in the blood. Typically, doctors recommend small, frequent meals throughout the day. The meals should be low in sugar to prevent glycogen from building up in the liver. Uncooked cornstarch can help maintain a healthy blood-sugar level.

In some cases, doctors may recommend a nasogastric tube or gastrostomy (G tube) that delivers a continuous supply of nutrition while the child is sleeping.

Children with GSD IV may need a liver transplant if the disease progresses to cirrhosis or liver failure.