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

Pediatrics and Neonatology

Yung-Ming Jeng¹  Huey-Ling Chen²  Szu-Ta Chen²  Yin-Hsiu Chien²  Yen-Hsuan Ni²  Mei-Hwei Chang²  Wuh-Liang Hwu² 

[1] Department of Pathology, National Taiwan University Hospital and National Taiwan University College of Medicine, Taipei, Taiwan;Department of Pediatrics, National Taiwan University Children's Hospital and National Taiwan University College of Medicine, Taipei, Taiwan;

关键词: glycogen storage disease;    hepatomegaly;    phosphorylase kinase;    X-linked liver glycogenosis (XLG);   

DOI  :  10.1016/S1875-9572(09)60068-1

来源: DOAJ

【 摘 要 】

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 subtypes: XLG-I, with a deficiency in PHK activity in peripheral blood cells and the liver; and XLG-II, with normal PHK activity in vitro. This report describes two boys who presented with hepatomegaly and abnormal liver function. Pedigree analysis revealed them to be fifth-degree relatives, with the disease transmitted through undiagnosed grandfathers. Liver histology confirmed GSD diagnosis, and both cases had a deficiency in PHK activity in red blood cells and liver tissues. This is the first report of XLG-I in the ethnic-Chinese population in Taiwan. This report indicates that XLG may be undiagnosed or underestimated. A correct diagnosis is necessary for proper management and genetic counseling.

【 授权许可】

Unknown