Coordinating care for glycogen storage disease 1a (GSD1a)

Glycogen storage diseases (GSDs) are a group of inherited disorders where the body is unable to store or use glycogen. Glycogen is a form of glucose, the body’s primary source of energy.

Also known as blood sugar, glucose is released into the bloodstream as the body digests and then metabolizes carbohydrates. Some of that glucose is used immediately. Some becomes glycogen, which is stored in liver cells and muscle cells for later use. Being able to store and use glycogen allows the body to keep blood glucose levels in a steady, controlled range.

Keep in mind that this is a simplified explanation of a process that involves the complex interaction of different molecules, enzymes, and cells. GSDs occur when genetic variations that are inherited from a person’s biological parents disrupt some part of this process.

Glycogen storage disease type 1a (GSD1a)

GSDs are rare, but some types are more common than others. One of the most common types is glycogen storage disease type 1a (GSD1a).

With GSD1a, genetic variations impact the body’s ability to synthesize an enzyme that the body needs to convert glycogen into free glucose that can be released into the blood stream and used for energy. This can also cause a buildup of excess fat and glycogen that can damage organs, including the liver and kidneys.

The main symptom of GSD1a is hypoglycemia, or very low blood sugar levels. This can lead to a wide range of symptoms including fatigue, dizziness, weakness, fast heart rate, anxiousness, and intense hunger. It can also lead to seizures, impaired growth, delayed puberty, high cholesterol, bone loss, and enlarged liver and/or kidneys.

GSD1a is a serious health condition that requires strict management.

Treatment for GSD1a

The main treatment for GSD1a is a special diet involving high-carbohydrate meals and uncooked cornstarch. Uncooked cornstarch is a complex carbohydrate that is slowly digested and metabolized. Because of the slow rate of digestion/metabolism, cornstarch acts as a slow release for glucose, and can help maintain steady blood glucose levels. This is used along with a continuous blood glucose monitor.

Diet and other aspects of treatment will be personalized based on an individual’s needs. Medications to manage cholesterol, lower uric acid levels, and protect kidney function may also be needed. New treatments are under development, including gene therapies, and treatment options are expected to expand in the near future. Clinical trials for new therapies may also be a consideration.

The healthcare providers that treat GSD1a

Individuals and families living with GSD1a will typically work with a team of healthcare providers with different specialties. Treatment is typically overseen by a biochemical geneticist, a medical doctor who specializes in treating inherited metabolic disorders. Key team members include a specialty dietitian, pediatrician/primary care provider (depending on the age of the person being treated), and often a genetics counselor.

Team members can vary depending on individual needs, and GSD1care teams may also include kidney specialists, liver specialists, neurologists, orthopedists, and other advanced practitioners.

Coordinating care among your GSD1a care team

It’s important that the different members of your team are in communication with one another. This is referred to as “care coordination,” and it can be a significant challenge when treating a condition like GSD1a.

The following are a few strategies that can help:

Work with a specialized team

One of the best approaches is to work with a multidisciplinary team based in a medical clinic that specializes in the diagnosis and treatment of inherited metabolic disorders (IMDs). This may also be called a medical genetics or biochemical genetics team.

However, the healthcare providers a person works with are often dictated by where they live and what healthcare providers are available in that area. A person may need to work with multiple providers working at multiple healthcare offices.

Here are two additional strategies that can help.

Designate a point person

Designate one healthcare provider as your "point person." This provider should maintain an overview of the different aspects of your care and treatment for GSD1a, including information about diagnosis and treatment. They should also have contact information for all providers you have worked with.

Keep a personal health record

This is a file that includes all paperwork and documents related to GSD1a as well as other aspects of your health and healthcare. This file should contain:

• Copies of test results, evaluations, and workups from specialists
• Treatment records, including medications prescribed
• Genetic testing results and family history information
• Contact information for all of your healthcare providers
• Insurance information
• Copies of bills, receipts, explanation of benefits (EOB) documents, and other information related to the financial aspects of treatment

You can also include your own notes from appointments and information provided by healthcare providers, such as patient education materials. While keeping and maintaining a personal health record can take time and effort, it can also save you time and effort. Organization can help you find relevant information quickly when contacting your insurance provider or if you are referred to a new specialist.