Type 0:

Type 0 symptoms commonly appear in late infancy when night feedings stop. In the early morning the child may have low blood sugar which could cause:

• Paleness
• Vomiting
• Extreme fatigue
• Convulsions

The children may also have a mild growth delay. They also may have poor exercise tolerance.

Type 1:

Type 1 may appear as early as 3 months old. Common symptoms include:

• Protruding abdomen from an enlarged liver and seizures from low blood sugar are common in infants
• Signs of low blood sugar including
  • Paleness
  • Irritability
  • Fatigue
  • Seizures
• Growth delay

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Type 2:

Type 2 is broken into the time of symptom onset. Infants generally show symptoms at 4-8 months of age. Type 2 can also form in childhood, adolescence, or adulthood.

Infant-onset Type 2 GSD symptoms include:

• Muscle weakness and floppiness
• Delayed motor skills
• Weak breathing
• Progressive heart muscle enlargement and reduced pumping may lead to fatal heart failure within first year of life

Late-onset Type 2 GSD symptoms include:

• Progressive muscle weakness that spreads from the legs into the arms
• Difficulty breathing

Type 3:

Type 3 may appear in childhood. Common symptoms include:

• Muscle weakness
• Growth delay during childhood
• Swollen abdomen due to an enlarged liver
• Signs of low blood sugar including
  • Paleness
  • Irritability
  • Fatigue

Type 4:

Type 4 appears during infancy. Common symptoms include:

• Physical and mental development stops at a certain point and does not continue as normal
• Progressive muscle weakness
• Poor muscle development
• Progressive cirrhosis of the liver, which may lead to liver failure

Type 5:

Common symptoms of Type 5 include:

• Muscle cramps during exercise
• Extreme muscle fatigue during exercise
• Potential fainting or seizure after exercise
• Red or brown-colored urine after exercise

Type 6, 9:

Symptoms may not appear in people with Types 6 or 9. When they do occur, symptoms include:

• Enlarged liver in infancy
• Mild growth delay
• Anxiety, sweating, confusion, or seizures associated with low blood sugar

Type 7:

Common symptoms of Type 7 include:

• Muscle cramps and tenderness with exercise
• Muscle fatigue with exercise
• Red or brown-colored urine after exercise

Pre-implantation Genetic Diagnosis

Type 0

People with Type 0 need to manage their blood sugar throughout the day. This means frequent meals or snacks every few hours. Uncooked cornstarch provides a steady, slow release of glucose and may help prevent low blood sugar in the overnight hours. Other considerations include eating high amounts of protein.

Type 1

Treatment for Type 1 includes eating small, frequent meals throughout the day. People with Type 1 may have to restrict certain sugars. This may include sugar found in fruits, juice, and candy. Eating uncooked cornstarch is also necessary. Many people will need to take a multivitamin.

Medications and procedure may be needed to control complications of Type 1 GSD.

Type 2

Type 2 is treated with enzyme replacement therapy. Alglucosidase alpha is given by IV infusion.

Type 3

People with Type 3 need to manage their blood sugar throughout the day. This means frequent meals or snacks every few hours. Diet for Type 3 includes high amounts of carbohydrates and cornstarch. Those with weak muscle involvement are generally put on a diet with high protein intake.

Liver transplant surgery may be necessary for some people who develop liver cancer or have liver failure.

Type 4

Type 4 treatment focuses on treating progressive liver disease and its complications. Ultimately, a liver transplant may be necessary to survive. This does not improve damage to the muscles from the condition though.

Type 5

There is no specific treatment for people with Type 5 GSD. Changing exercise patterns and avoiding certain activities may be important to help manage this condition. Exercise tolerance may be improved by ingestion of some sugars prior to starting exercise.

Type 6 and Type 9

Treatment includes cornstarch to avoid low blood sugars and eating adequate amounts of protein. Frequent meals may also be needed to help avoid low blood sugars. These changes can help promote normal growth and development.

Type 7

Type 7 treatment focuses on avoiding high muscle stress. This can be accomplished by reducing strenuous exercise to manageable levels. In some people, high protein intake has helped with muscle weakness.