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)


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.


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.


Unable to display preview. Download preview PDF.

Unable to display preview. Download preview PDF.


  1. 1.
    W. C. McMurrey, F. Mohyuddin, R. J. Rossiter, C. Ratbun, G. H. Valentine, S. J. Koegler and D. E. ZargasGoogle Scholar
  2. Citrullinemia, a new amino aciduria associated with mental retardation, Lancet 1:138 (1962).Google Scholar
  3. 2.
    V. E. Shih, Hereditary urea-cycle disorders, in: “The urea Cycle”, S. Grisolia, R. Baguena and F. Mayor, eds., John-Wiley and Sons, New York (1976).Google Scholar
  4. T. Saheki, A. Ueda, M. Hosoya, K. Kusumi, S. Takada, M. Tsuda and T. Katsunuma, Qualitative and Quantitative abnormalities of argininosuccinate synthetase in citrullinemia, Clin. Chim. Acta. 109:325 (1981).Google Scholar
  5. Y. Yajima, T. Hirasawa and T. Saheki, Treatment. of adult-type citrullinemia with oral administration of citrate, Acta Hepatl. Jap. 21:1682 (1980).Google Scholar
  6. M. Yamauchi, T. Kitahara, K. Fujisawa, H. Kameda, S. Takasaki, R. Komori, T. Saheki, T. Katsunuma and N. Katunuma, An autopsied case of hypercitrullinemia in an adult caused by partial deficiency of liver argininosuccinate synthetase, Acta Hepatol. Jap 21:326 (1980).Google Scholar
  7. 6.
    N. Yamada, M. Fukui, K. Ishii, H. Shibata, H. Ohomiya, A. Matsunobu and M. Nishizima, A case of adult form hypertransaminasemia after delivery, Gastroenterología. Jap. 77: 1655 (1980)Google Scholar
  8. Y. Suzuki, N. Yamamura, K. Nozawa, Y. Akahane, K. Kiyosawa, A. Nagata, S. Furuta and K. Chiba, A case of adult-type congenital citrullinemia, Acta Hepatol. Jap., 21:1215 (1980)Google Scholar
  9. 8.
    M. Takamizawa, M. Toru, T. Kojima, A. Watanabe and K. Hirokawa, An autopsy case of juvenile hepato-cerebral degeneration (non-Wilsonian Inose-type) with mental retardation with special reference to amino acids metabolism, Psychiatr. Neurol. Jap., 75: 370 (1973).Google Scholar
  10. R. T. Schimke, Enzymes of arginine metabolism in mammalian cell culture. 1. Repression of argininosuccinate synthetase and argininosuccinase. J. Biol. Chem. 239:136 (1964).Google Scholar
  11. R. T. Schimke, Adaptive characteristics of urea cycle enzymes in the rat, J. Biol. Chem. 237:459 (1962).Google Scholar
  12. 11.
    W. E. O’Brien, Isolation and characterization of argininosuccinate synthetase from human liver, Biochemistry 18: 5353 (1979)Google Scholar
  13. 12.
    T. Saheki, A. Ueda, K. Iizima, N. Yamada, K. KobayashiGoogle Scholar
  14. K Kobayashi, K. Takahashi and T. Katsunuma, ArgininosuccinateGoogle Scholar
  15. synthetase activity in cultured skin fibroblasts of citrulli-Google Scholar
  16. nemic patients, Clin. Chim. Acta in press.Google Scholar
  17. 13.
    M. Vidailhet, B. Levin, M. Dautrevaux, P. Paysant, S. Gelot, Y. Badonnel, M Pierson, N. Neimann, Citrullinemie, Arch. Franc. Ped. 28: 521 (1971).Google Scholar
  18. 14.
    F. H. Roerdink, W. L. M. Gouw, A. Okken, J. F. Van der Blij, G. Luitde Haan, F. A. Hommes and H. J. Huisjes, Citrullinemia, report of a case, with studies on antenatal diagnosis, Pediatr. Res. 7: 863 (1973).Google Scholar
  19. 15.
    M. Walser, M. Batshaw, G. Sherwood, B. Robinson and S. Brusilow, Nitrogen metabolism in neonatal citrullinemia, Clin. Sci. Mol. Med. 53: 173 (1977).Google Scholar
  20. 16.
    G. Morrow, L. A. Barness and M. L. Efron, Citrullinemia with defective urea production, Pediat. 50: 565 (1967).Google Scholar
  21. 17.
    M. Funahashi, H. Kato, S. Shiosaka and H. Nakagawa, Formation of arginine and guanidinoacetic acid in the kidney in vivo. J. Biochem. 89: 1347 (1981).Google Scholar

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

Personalised recommendations