Glycogen Storage Disease, Type VI (PYGL)

Glycogen storage disease, type VI (GSD6) is an autosomal recessive disorder caused by pathogenic variants in the gene PYGL. The clinical presentation for this disorder can range from mild to severe and includes recurrent severe hypoglycemia, severe hepatomegaly, and postprandial lactic acidosis. If left untreated, the disorder can lead to delayed growth, weak muscle tone, fatigue, and osteoporosis. Affected individuals have an increased risk of hepatic adenoma in childhood or adulthood, and pregnant women with this disorder can experience hypoglycemia. While information on life expectancy for this disorder is currently unavailable, the prognosis is generally considered to be good.

For information about carrier frequency and residual risk, please see the residual risk table.

This gene is included on the following panel(s):