PYGL and Hypoglycemia: At present, the PYGL gene is the only gene clearly associated with GSD VI.[19] Classic manifestations include growth retardation, hepatomegaly, mild hypoglycemia, ketosis, hyperlipidemia, elevated transaminases, and generally normal lactate and uric acid.[20] Some researchers had found that liver glycogen accumulated excessively over time to increase the risk of liver injury, inflammation and fibrosis by constructing PYGL gene mutation mouse model.[19] In this report, there were 2 mutations of PYGL gene in this pedigree.