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The exact prevalence of GSDVI is unknown. At least 11 instances have been reported within the medical literature, although this situation is prone to be underdiagnosed as a result of it can be tough to detect in children with mild symptoms or adults with no symptoms. GSDVI is more widespread in the Old Older Mennonite population, with an estimated incidence of 1 in 1,000 individuals. Mutations in the PYGL gene cause GSDVI. The PYGL gene gives directions for making an enzyme called liver glycogen phosphorylase. This enzyme is discovered only in liver cells, where it breaks down glycogen into a type of sugar known as glucose-1-phosphate. Additional steps convert glucose-1-phosphate into glucose, a simple sugar that is the primary energy source for many cells in the physique. PYGL gene mutations stop liver glycogen phosphorylase from breaking down glycogen effectively. Because liver cells can't break down glycogen into glucose, individuals with GSDVI can have hypoglycemia and should use fats for power, resulting in ketosis.

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