Pediatrics & Neonatology
Volume 50, Issue 5 , Pages 230-233, October 2009

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

  • Szu-Ta Chen

      Affiliations

    • Department of Pediatrics, National Taiwan University Children's Hospital and National Taiwan University College of Medicine, Taipei, Taiwan
    • ,
  • Huey-Ling Chen

      Affiliations

    • Department of Pediatrics, National Taiwan University Children's Hospital and National Taiwan University College of Medicine, Taipei, Taiwan
    • ,
  • Yen-Hsuan Ni

      Affiliations

    • Department of Pediatrics, National Taiwan University Children's Hospital and National Taiwan University College of Medicine, Taipei, Taiwan
    • ,
  • Yin-Hsiu Chien

      Affiliations

    • Department of Pediatrics, National Taiwan University Children's Hospital and National Taiwan University College of Medicine, Taipei, Taiwan
    • Department of Medical Genetics, National Taiwan University Children's Hospital and National Taiwan University College of Medicine, Taipei, Taiwan
    • ,
  • Yung-Ming Jeng

      Affiliations

    • Department of Pathology, National Taiwan University Hospital and National Taiwan University College of Medicine, Taipei, Taiwan
    • ,
  • Mei-Hwei Chang

      Affiliations

    • Department of Pediatrics, National Taiwan University Children's Hospital and National Taiwan University College of Medicine, Taipei, Taiwan
    • ,
  • Wuh-Liang Hwu

      Affiliations

    • Department of Pediatrics, National Taiwan University Children's Hospital and National Taiwan University College of Medicine, Taipei, Taiwan
    • Department of Medical Genetics, National Taiwan University Children's Hospital and National Taiwan University College of Medicine, Taipei, Taiwan
    • Corresponding Author InformationCorresponding author. Department of Pediatrics, National Taiwan University Children's Hospital and National Taiwan University College of Medicine, No. 8, Chung-Shan South Road, Taipei, Taiwan

Received 16 December 2008; received in revised form 27 February 2009; accepted 4 March 2009.

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.

Key Words:  glycogen storage disease , hepatomegaly , phosphorylase kinase , X-linked liver glycogenosis (XLG)

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PII: S1875-9572(09)60068-1

doi:10.1016/S1875-9572(09)60068-1

Pediatrics & Neonatology
Volume 50, Issue 5 , Pages 230-233, October 2009

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