Guanidines pp 181-193 | Cite as

Hyperargininemia: Treatment with Sodium Benzoate and Phenylacetic Acid

  • Naoki Mizutani
  • Mitsuo Maehara
  • Chiemi Hayakawa
  • Tomoaki Kato
  • Kazuyoshi Watanabe
  • Sakae Suzuki


Hyperargininemia is a rare hereditary disorder of the urea cycle due to arginase deficiency. This disorder is the most uncommon among five inborn errors resulting from enzyme deficiencies of the urea cycle. Hyperargininemia was first described by Terheggen et al. in 19691, and to our knowledge, there have been at least fifteen case reports in the literature 1–12. Patients with this disorder all have the same clinical symptoms, which include vomiting, irritability, lethargy, convulsions and coma. Severe mental retardation and a marked degree of spasticity are also observed.


Urinary Excretion Urea Cycle Hippuric Acid Phenylacetic Acid Sodium Benzoate 
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.
    H. G. Terheggen, A. Schwenk, A. Lowenthal, M. Van Sande and J. P. Colombo, Argininemia with arginase deficiency, Lancet 2: 748 (1969).Google Scholar
  2. 2.
    H. G. Terheggen, A. Lowenthal, F. Lavinha and J. P. Colombo, Familial hyperargininemia, Arch. Dis. Child. 50:57 (1975).Google Scholar
  3. 3.
    H. G. Terheggen, A. Lowenthal, F. Lavinha, J. P. Colombo and S. Rogers, Unsuccessful trial of gene replacement in arginase deficiency, Z. Kinderheilk. 119:1 (1975).Google Scholar
  4. 4.
    D. Cederbaum, K. N. F. Shaw and M. Valente, Hyperargininemia, J. Pediatr. 90:569 (1977).Google Scholar
  5. 5.
    S. E. Snyderman, C. Sansaricq, W. J. Chen, P. M. Norton and S. V. Phansalkar, Argininemia, J. Pediatr. 90:563 (1977).Google Scholar
  6. 6.
    V. V. Michels and A. L. Beaudet, Arginase deficiency in multiple tissues in argininemia, Clin. Genet. 13:61 (1978).Google Scholar
  7. 7.
    S. E. Snyderman, C. Sansaricq, P. M. Norton and F. Goldstein, Argininemia treated from birth, J. Pediatr. 95:61 (1979).Google Scholar
  8. 8.
    I. A. Qureshi, J. Letarte, R. Ouellet, M. Lelievre and C. Laberge, Ammonia metabolism in a family affected by hyperargininemia, Diabet. Metabol. 7:5 (1981).Google Scholar
  9. 9.
    S. D. Cederbaum, S. J. Moedjono, K. N. F. Shaw, M. Carter, E. Naylor and M. Walzer, Treatment of hyperargininaemia due to arginase deficiency with chemically defined diet, J. Inher. Metab. Dis. 5:95 (1982).Google Scholar
  10. 10.
    M. Yoshino, K. Kubota, I. Yoshida, T. Murakami and F. Yamashita, Argininemia: Report of a new case and mechanisms of orotic aciduria and hyperammonemia, in:“Urea Cycle Diseases,” A. Lowenthal, A. Mori and B. Marescau, eds., pp 121, Plenum Press, New York (1983).Google Scholar
  11. 11.
    T. Sakiyama, H. Nakabayashi, Y. Kondo, H. Shimizu, S. Kodama and T. Kitagawa, Argininemia: Clinical course and trial of enzyme replacement therapy, Biomedicine & Therapeutics (in Japanese), 8: 907 (1982).Google Scholar
  12. 12.
    K. Adriaenssens, D. Karcher, A. Lowenthal and H. G. Terheggen, Use of enzyme-loaded erythrocytes in in-vitro correction of arginase-deficient erythrocytes in familial hyperargininemia, Clin. Chem. 22:323 (1976).Google Scholar
  13. 13.
    W. M. Pardridge, Lysine supplementation in hyperargininemia, J. Pediatr. 91:1032 (1977).Google Scholar
  14. 14.
    M. L. Batshaw, G. H. Thomas and S. W. Brusilow, New approaches to the diagnosis and treatment of inborn errors of urea synthesis, Pediatrics 68: 290 (1981).Google Scholar
  15. 15.
    M. L. Batshaw, S. Brusilow, L. Waber, W. Blom, A. M. Brubakk, B. K. Burton, H. M. Cann, D. Kerr, P. Mamunes, R. Matalon, D. Myerberg and I. A. Schafer, Treatment of inborn errors of urea synthesis: Activation of alternative pathways of waste nitrogen synthesis and excretion, N. Engl. J. Med. 306:1387 (1982).Google Scholar
  16. 16.
    E. Takeda, Y. Kuroda, K. Toshima, T. Watanabe, E. Naito and M. Miyao, Effect of long-term administration of sodium benzoate to a patient with partial ornithine carbamoyl transferase deficiency, Clin. Pediatr. 22:206 (1983).Google Scholar
  17. 17.
    K. Tada, K. Okuda, K. Watanabe, Y. Iimura and S. Yamada, A new method for screening for hyperammonemia, Eur. J. Pediatr. 130:105 (1979).Google Scholar
  18. 18.
    A. Mondzac, G. E. Ehrlich and J. E. Seegmiller, An enzymatic determination of ammonia in biological fluids, J. Lab. & Clin. Med. 66:526 (1965).Google Scholar
  19. 19.
    V. E. Shih, T. C. Jones, H. L. Levy and P. M. Madigan, Arginase deficiency in Macaca fascicularis. I. Arginase activity and arginine concentration in erythrocytes and in liver, Pediatr. Res. 6:548 (1972).Google Scholar
  20. 20.
    T. Adachi, A. Tanimura and M. Asahina, A colorimetric determination of orotic acid, J. Vitaminol. 9:217 (1963).Google Scholar
  21. 21.
    B. Marescau, A. Lowenthal, H. G. Terheggen, E. Esmans and F. Alderweireldt, Guanidino compounds in hyperargininemia, in:“Urea Cycle Diseases,” A. Lowenthal, A. Mori and B. Marescau eds., pp 427, Plenum Press, New York (1983).Google Scholar

Copyright information

© Springer Science+Business Media New York 1985

Authors and Affiliations

  • Naoki Mizutani
    • 1
  • Mitsuo Maehara
    • 1
  • Chiemi Hayakawa
    • 1
  • Tomoaki Kato
    • 1
  • Kazuyoshi Watanabe
    • 1
  • Sakae Suzuki
    • 1
  1. 1.Department of PediatricsNagoya University School of MedicineNagoyaJapan

Personalised recommendations