A very rare case report of glycogen storage disease type IXc with novel PHKG2 variants

• Main Authors: Yongxian Shao (Author), Taolin Li (Author), Minyan Jiang (Author), Jianan Xu (Author), Yonglan Huang (Author), Xiuzhen Li (Author), Ruidan Zheng (Author), Li Liu (Author)
• Format: Book
• Published: BMC, 2022-05-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Abstract Background Pathogenic mutations in the PHKG2 are associated with a very rare disease-glycogen storage disease IXc (GSD-IXc)-and are characterized by severe liver disease. Case presentation Here, we report a patient with jaundice, hypoglycaemia, growth retardation, progressive increase in li...