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 ,Revised 27 February 2009 ,Accepted 4 March 2009.

References 

  1. Hendrickx J , Willems PJ . Genetic deficiencies of the glycogen phosphorylase system . Hum Genet . 1996;97:551–556
  2. Alvarado LJ , Gasca-Centeno E , Grier RE . Hepatic phosphorylase b kinase deficiency with normal enzyme activity in leukocytes . J Pediatr . 1988;113:865–867
  3. Bakker HD , Taminiau JA , van den Berg JE , et al.   Hepatic phosphorylase b kinase deficiency with normal enzyme activity in leukocytes and erythrocytes . J Inherit Metab Dis . 1991;14:269–270
  4. Carrière C , Jonic S , Mornon JP , Callebaut I . 3D mapping of glycogenosis-causing mutations in the large regulatory alpha subunit of phosphorylase kinase . Biochim Biophys Acta . 2008;1782:664–670
  5. Willems PJ , Gerver WJ , Berger R , et al.   The natural history of liver glycogenosis due to phosphorylase kinase deficiency: a longitudinal study of 41 patients . Eur J Pediatr . 1990;149:268–271
  6. Hendrickx J , Lee P , Keating JP , et al.   Complete genomic structure and mutational spectrum of PHKA2 in patients with x-linked liver glycogenosis type I and II . Am J Hum Genet . 1999;64:1541–1549
  7. Schippers HM , Smit GP , Rake JP , et al.   Characteristic growth pattern in male X-linked phosphorylase-b kinase deficiency (GSD IX) . J Inherit Metab Dis . 2003;26:43–47
  8. Burwinkel B , Shin YS , Bakker HD , et al.   Mutation hotspots in the PHKA2 gene in X-linked liver glycogenosis due to phosphorylase kinase deficiency with atypical activity in blood cells (XLG2) . Hum Mol Genet . 1996;5:653–658
  9. Burwinkel B , Amat L , Gray RGF , et al.   Variability of biochemical and clinical phenotype in X-linked liver glycogenosis with mutations in the phosphorylase kinase PHKA2 gene . Hum Genet . 1998;102:423–429
  10. van den Berg IET , van Beurden EACM , Malingré HE , et al.   X-linked liver phosphorylase kinase deficiency is associated with mutations in the human liver phosphorylase kinase a subunit . Am J Hum Genet . 1995;56:381–387
  11. Hendrickx J , Dams E , Coucke P , et al.   X-linked liver glycogenosis type II (XLG II) is caused by mutations in PHKA2, the gene encoding the liver alpha subunit of phosphorylase kinase . Hum Mol Genet . 1996;5:649–652
  12. Hendrickx J , Willems PJ . Genetic deficiencies of the glycogen phosphorylase system . Hum Genet . 1996;97:551–556
  13. Hirono H , Hayasaka K , Sato W , et al.   Isolation of cDNA encoding the human liver phosphorylase kinase a subunit (PHKA2) and identification of a missense mutation of the PHKA2 gene in a family with liver phosphorylase kinase deficiency . Biochem Mol Biol Int . 1995;36:505–511
  14. Hendrickx J , Coucke P , Dams E , et al.   Mutations in a phosphorylase kinase gene PHKA2 are responsible for X-linked liver glycogenosis . Hum Mol Genet . 1995;4:77–83
  15. Ban K , Sugiyama K , Goto K , et al.   Detection of PHKA2 gene mutation in four Japanese patients with hepatic phosphorylase kinase deficiency . Tohoku J Exp Med . 2003;200:47–53
  16. Tang NL , Hui J , Young E , et al.   A novel mutation (G233D) in the glycogen phosphorylase gene in a patient with hepatic glycogen storage disease and residual enzyme activity . Mol Genet Metab . 2003;79:142–145
  17. Rudolfova J , Slovackova R , Trbusek M , et al.   Identification of three novel mutations in the PHKA2 gene in Czech patients with X-linked liver glycogenosis . J Inherit Metab Dis . 2001;24:85–87
  18. Hirono H , Shoji Y , Takahashi T , et al.   Mutational analyses in four Japanese families with X-linked liver phosphorylase kinase deficiency type 1 . J Inherit Metab Dis . 1998;21:846–852
  19. Hidaka F , Sawada H , Matsuyama M , Nunoi H . A novel mutation of the PHKA2 gene in a patient with X-linked liver glycogenosis type 1 . Pediatr Int . 2005;47:687–690
  20. Fukao T , Zhang G , Aoki Y , et al.   Identification of Alu-mediated, large deletion-spanning introns 19-26 in PHKA2 in a patient with X-linked liver glycogenosis (hepatic phosphorylase kinase deficiency) . Mol Genet Metab . 2007;92:179–182
  21. Beauchamp NJ , Dalton A , Ramaswami U , et al.   Glycogen storage disease type IX: high variability in clinical phenotype . Mol Genet Metab . 2007;92:88–99
  22. Labrune P , Trioche P , Duvaltier I , et al.   Hepatocellular adenomas in glycogen storage disease type I and III: a series of 43 patients and review of the literature . J Pediatr Gastroenterol Nutr . 1997;24:276–279
  23. Pinsk M , Burzynski J , Yhap M , et al.   Acute myelogenous leukemia and glycogen storage disease 1b . J Pediatr Hematol Oncol . 2002;24:756–758
  24. Gitzelmann R , Bosshard NU . Defective neutrophil and monocyte functions in glycogen storage disease type Ib: a literature review . Eur J Pediatr . 1993;152:S33–S38

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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