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

• Main Authors: Xiaomei Luo (Author), Jiacheng Hu (Author), Xueren Gao (Author), Yanjie Fan (Author), Yu Sun (Author), Xuefan Gu (Author), Wenjuan Qiu (Author)
• Format: Book
• Published: BMC, 2020-04-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Abstract 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 retar...