Novel PYGL mutations in Chinese children leading to glycogen storage disease type VI: two case reports.

Abstract excerpt

BACKGROUND: PYGL mutations can cause liver phosphorylase deficiency, resulting in a glycogenolysis disorder, namely, glycogen storage disease (GSD) VI. The disease is rarely reported in the Chinese population. GSD VI is mainly characterized in untreated children by hepatomegaly, growth retardation and elevated liver transaminases. CASE PRESENTATION: In this study, we report two GSD VI patients with growth...

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• Child, Preschool
• China
• Hepatomegaly
• Infant
• Liver
• Mutation