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Enzymatic Analysis of Citrullinemia (12 Cases) in Japan

  • Takeyori Saheki
  • Atsuko Ueda
  • Masakazu Hosoya
  • Mariko Sase
  • Kyoko Nakano
  • Tsunehiko Katsunuma
Part of the Advances in Experimental Medicine and Biology book series (AEMB, volume 153)

Abstract

Citrullinemia, first described by McMurrey et al l, is considered a rare hereditary disorder of the urea cycle caused by a deficient activity of argininosuccinate synthetase(ASS). Shih2reviewed 12 cases in 1975. In Japan, however, more than 40 cases of citrullinemia have been reported. Most of them were characterized by higher age of onset and moderately high level of serum citrulline3in contrast to neonatal onset and extremely high concentration of serum citrulline of classical-or neonatal-type citrullinemia described by McMurrey et al. and others. These findings suggest that there may be some heterogeneities in citrullinemia. So we analyzed the properties of ASS in the liver and other organs of 12 cases of citrullinemia in Japan.

Keywords

Urea Cycle Cultured Skin Fibroblast Negative Cooperativity Double Immunodiffusion Argininosuccinate Synthetase 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

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Copyright information

© Springer Science+Business Media New York 1982

Authors and Affiliations

  • Takeyori Saheki
    • 1
  • Atsuko Ueda
    • 2
  • Masakazu Hosoya
    • 2
  • Mariko Sase
    • 1
  • Kyoko Nakano
    • 1
  • Tsunehiko Katsunuma
    • 2
  1. 1.Department of Biochemistry, School of MedicineKagoshima UniversityKagoshima, 890Japan
  2. 2.Department of Biochemistry, School of MedicineTokai UniversityIseharaJapan

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