Pediatric Neurology
Volume 30, Issue 3 , Pages 216-218 , March 2004

A successful treatment with pyridoxal phosphate for West syndrome in hypophosphatasia

  • Hitoshi Yamamoto, MD

      Affiliations

    • Department of Pediatrics, St. Marianna University School of Medicine, Kawasaki, Japan
    • Corresponding Author InformationCommunications should be addressed to:Dr. Yamamoto; Department of Pediatrics; St. Marianna University School of Medicine; Kawasaki 216-8511; Japan.
    • ,
  • Yuka Sasamoto, MD

      Affiliations

    • Department of Pediatrics, St. Marianna University School of Medicine, Kawasaki, Japan
    • ,
  • Yusaku Miyamoto, MD

      Affiliations

    • Department of Pediatrics, St. Marianna University School of Medicine, Kawasaki, Japan
    • ,
  • Hiroshi Murakami, MD

      Affiliations

    • Department of Pediatrics, St. Marianna University School of Medicine, Kawasaki, Japan
    • ,
  • Noriko Kamiyama, MD

      Affiliations

    • Department of Pediatrics, St. Marianna University School of Medicine, Kawasaki, Japan

Received 15 May 2003 ,Accepted 6 August 2003.

References 

  1. Whyte MP, Magill HL, Fallon MD, Herrod HG. Infantile hypophosphatasia (Normalization of circulating bone alkaline phosphatase activity followed by skeletal remineralization (evidence for an intact structural gene for tissue nonspecific alkaline phosphatase)). J Pediatr. 1986;108:82–85
  2. Ornoy A, Adomian GE, Rimoin DL. Histologic and ultrastructural studies on the mineralization process in hypophosphatasia. Am J Med Genet. 1985;22:743–758
  3. Shohat M, Rimoin DL, Gruber HE, Lachman RS. Perinatal lethal hypophosphatasia (Clinical radiologic and morphologic findings). Pediatr Radiol. 1991;21:421–427
  4. Waymire KG, Mahuren JD, Jaje JM, et al.  Mice lacking tissue non-specific alkaline phosphatase die from seizures due to defective metabolism of vitamin B-6. Nat Genet. 1995;11:45–51
  5. Whyte MP, Mahuren JD, Vrabel LA, Coburn SP. Markedly increased circulating pyridoxal 5′;-phosphate concentrations in hypophosphatasia (alkaline phosphatase acts in vitamin B6 metabolism). J Clin Invest. 1985;76:752–756
  6. Fedde KN, Whyte MP. Alkaline phosphatase (tissue-nonspecific isoenzyme) is a phosphoethanolamine and pyridoxal 5′;-phosphate ectophosphatase (Normal and hypophosphatasia fibroblast study). Am J Hum Genet. 1990;47:767–775
  7. Nunes ML, Mugnol F, Bica I, Fiori RM. Pyridoxine-dependent seizures associated with hypophosphatasia in a newborn. J Child Neurol. 2002;17:222–224
  8. Litmanovitz I, Reish O, Dolfin T, et al.  Glu274Lys/Gly309Arg mutation of the tissue-nonspecific alkaline phosphatase gene in neonatal hypophosphatasia associated with convulsions. J Inherit Metab Dis. 2002;25:35–40

PII: S0887-8994(03)00442-9

doi: 10.1016/j.pediatrneurol.2003.08.003

Pediatric Neurology
Volume 30, Issue 3 , Pages 216-218 , March 2004

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