Glycogen storage disease type 0, liver

What is glycogen storage disease type 0?

Glycogen storage disease type 0, liver (liver GSD 0), a form of glycogen storage disease (GSD), is a rare abnormality of glycogen metabolism (how the body uses and stores glycogen, the storage form of glucose). Unlike other types of GSD, liver GSD 0 does not involve excessive or abnormal glycogen storage, and causes moderately decreased glycogen stores in the liver. Symptoms typically begin in infancy or in early childhood and may include drowsiness, sweating, lack of attention, fasting hypoglycemia associated with hyperketonemia, seizures, and other findings. It is caused by a deficiency of the enzyme glycogen synthetase in the liver, due to mutations in the GYS2 gene. It is inherited in an autosomal recessive manner. Treatment involves a specific diet that includes frequent meals with high protein intake during the day, and uncooked starch in the evening. The prognosis is usually favorable when the disease is correctly managed. This condition differs from another form of GSD 0 which chiefly affects the muscles and heart (Glycogen storage disease type 0, muscle) and is thought to be caused by mutations in the GYS1 gene.

Last updated on 05-01-20

Name: Metabolic Support UK 5 Hilliards Court Sandpiper Way
Chester Business Park
Chester, CH4 9QP, United Kingdom
Phone: 0845 241 2173 Toll Free: 0800 652 3181 Email: Url:
Name: Association for Glycogen Storage Disease PO Box 896
Durant, IA, 52747 , United States
Phone: 1-563-514-4022 Email: Url:
Name: Association for Glycogen Storage Disease UK Old Hambledon Racecourse Sheardley Lane
Droxford, Southampton, SO32 3QY
United Kingdom
Phone: 0300 123 2790 (Office hrs, Mon-Thurs) or 0300 123 2799 (Out of hours) Url:
Name: Children's Fund for Glycogen Storage Disease Research, Inc. 20 Sherwood Lane
Cheshire, CT, 06410, United States
Phone: 203-272-7744 Email: Url:

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