X-linked Liver Glycogenosis in a Taiwanese Family: Transmission From Undiagnosed Males

• Main Authors: Szu-Ta Chen (Author), Huey-Ling Chen (Author), Yen-Hsuan Ni (Author), Yin-Hsiu Chien (Author), Yung-Ming Jeng (Author), Mei-Hwei Chang (Author), Wuh-Liang Hwu (Author)
• Format: Book
• Published: Elsevier, 2009-10-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

X-linked liver glycogenosis (XLG), also known as glycogen storage disease type-IXa, is characterized by hepatomegaly, abnormal liver functions and growth retardation. It is caused by mutations in the PHKA2 gene that encodes the α-subunit of phosphorylase kinase (PHK). XLG can be divided into two sub...