Pediatrics & Neonatology
Volume 50, Issue 3 , Pages 125-128, June 2009

Glycogen Storage Disease Type Ib: The First Case in Taiwan

  • Hui-Ju Hsiao

      Affiliations

    • Department of Pediatrics National Taiwan University Hospital and National Taiwan University College of Medicine, Taipei, Taiwan
    • ,
  • Hsiu-Hao Chang

      Affiliations

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

      Affiliations

    • Department of Pediatrics National Taiwan University Hospital and National Taiwan University College of Medicine, Taipei, Taiwan
    • Department of Medical Genetics, National Taiwan University Hospital and National Taiwan University College of Medicine, Taipei, Taiwan
    • ,
  • Ching-Wan Lam

      Affiliations

    • Department of Chemical Pathology, The Chinese University of Hong Kong, Hong Kong, China
    • ,
  • Ni-Chung Lee

      Affiliations

    • Department of Medical Genetics, National Taiwan University Hospital and National Taiwan University College of Medicine, Taipei, Taiwan
    • ,
  • Yin-Hsiu Chien

      Affiliations

    • Department of Pediatrics National Taiwan University Hospital and National Taiwan University College of Medicine, Taipei, Taiwan
    • Department of Medical Genetics, National Taiwan University Hospital and National Taiwan University College of Medicine, Taipei, Taiwan
    • Corresponding Author InformationCorresponding author. Department of Medical Genetics, National Taiwan University Hospital, 7 Chung-Shan South Road, Taipei 100, Taiwan

Received 18 August 2008; received in revised form 10 November 2008; accepted 17 December 2008.

Glycogen storage disease (GSD) type Ib is caused by the deficiency of glucose-6-phosphate translocase activity. The elder brother of the proband died at age 20 months, and GSD Ia, a disease caused by the deficiency of glucose-6-phosphatase, was the diagnosis. The proband developed hypoglycemia shortly after birth. Dietary therapy was instituted immediately, but his growth was poor and there were repeated episodes of pyogenic infection. Neutropenia had been observed since 6 months of age, but the diagnosis of GSD Ib was established only at 18 months of age after two mutations (c.354_355insC (p. W118fsX12) and c.736T >C (p.W246R)) were detected on his SLC37A4 gene. Regular administration of G-CSF rapidly improved his health and decreased his hospital stay. Although GSD Ib is very rare in Taiwan, correct diagnosis is essential to save the lives of such patients.

Key Words:  G-CSF , glycogen storage disease type Ib , neutropenia , recurrent infection

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PII: S1875-9572(09)60048-6

doi:10.1016/S1875-9572(09)60048-6

Pediatrics & Neonatology
Volume 50, Issue 3 , Pages 125-128, June 2009

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