Glycogen Storage Disease Program
CHOC offers the only dedicated and multidisciplinary program in California for the treatment of glycogen storage disease (GSD), a rare condition that changes the way the body uses and stores glycogen.
At CHOC, children with GSD receive comprehensive and coordinated treatment. In a single visit, patients and their families will see a board-certified biochemical metabolic doctors, a specialized dietitian and a social worker, all of whom have expertise to collectively manage GSD.
The CHOC Difference
- A dedicated GSD program for our patients so that we can provide better resources and care to our patients and families
- A comprehensive team of specialists who have expertise treating children with GSD, including board-certified biochemical metabolic disorder doctors, specialized metabolic dietitians and a social worker
- GSD metabolic dietitians that understand the difficulties of a GSD diet, and provide counseling and dietary recommendations
- A single-care setting for all diagnostic and treatment planning, for the convenience of families
- A dedicated metabolic laboratory that provides accurate and rapid test results. This can be especially important with a progressing metabolic disorder.
- Continuity of care to our patients as they get older, including medical care and monitoring during pregnancy
- Close coordination with your child’s referring pediatrician and subspecialists
- The opportunity for families to participate in clinical and bench research as we work to discover new and better treatments for GSD
- A holistic approach to treatment: we keep your child’s current and future health in mind and prepare for meaningful survivorship into adulthood
- Recognition as a NORD Rare Disease Center of Excellence by the National Organization for Rare Disorders, a distinction given to only 31 hospitals in the nation.
Frequently Asked Questions About Glycogen Storage Diseases
Glycogen is a main source of energy for the body, and is stored in the liver. When the body needs more energy, certain proteins called enzymes break down glycogen into glucose, and send the glucose into the body.
When someone has GSD, they are missing one of the enzymes that breaks down glycogen. When an enzyme is missing, glycogen can build up in the liver, or glycogen may not form properly. This can cause problems in the liver, muscles or other parts of the body.
GSD is hereditary and is passed down from parents to children. It is most often seen in babies or young children, but some forms of GSD may appear in adults.
The most common types of GSD are types I, III, and IV:
Type I or von Gierke’s disease. This is the most common form of GSD. People with type I don’t have the enzyme needed to turn glycogen into glucose in the liver. Glycogen builds up in the liver. Symptoms often appear in babies around 3 to 4 months old. They may include low blood sugar (hypoglycemia) and a swollen belly because of an enlarged liver.
Type III or Cori’s disease. People with type III don’t have enough of an enzyme that helps break down glycogen, and the glycogen can’t fully break down. It collects in the liver and in muscle tissues. Symptoms include a swollen belly, delayed growth and weak muscles.
Type IV or Anderson’s disease. People with type IV form abnormal glycogen. Experts think the abnormal glycogen triggers the body’s immune system, creating scarring (cirrhosis) of the liver and other organs such as muscle and the heart.
Because GSD most often affects the muscles and the liver, those areas show the most symptoms.
General symptoms of GSD may include:
- Not growing fast enough
- Not feeling comfortable in hot weather (heat intolerance)
- Bruising too easily
- Low blood sugar (hypoglycemia)
- An enlarged liver
- A swollen belly
- Weak muscles (low muscle tone)
- Muscle pain and cramping during exercise
- Too much acid in the blood (acidosis)
- High blood cholesterol levels (hyperlipidemia)
Your child’s provider may do a few blood tests. He or she may also take a small tissue sample (biopsy) of your child’s liver or muscle. The sample will be tested to see how much of a certain enzyme is in that part of the body.
For types I, III, and IV, your child’s doctor may suggest a special diet to help control symptoms. Your child may also have to take certain medicines.
For other types of GSD, your child may need to limit exercise to avoid muscle cramps. He or she may need to have a medical treatment to replace the enzyme that is missing (enzyme replacement therapy).
Type III. This can cause harmless (benign) tumors in the liver.
Type IV. Over time this can cause scarring (cirrhosis) of the liver.
Charlotte's Story: Diagnosing a Rare Disease
After years of searching for answers, Charlotte is now thriving after being diagnosed with glycogen storage disease, a rare and deadly disease, by Dr. Richard Chang and the CHOC metabolic disorder team.