Abstract
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.
This is a preview of subscription content, log in via an institution.
Buying options
Tax calculation will be finalised at checkout
Purchases are for personal use only
Learn about institutional subscriptionsPreview
Unable to display preview. Download preview PDF.
References
H. G. Terheggen, A. Schwenk, A. Lowenthal, M. Van Sande and J. P. Colombo, Argininemia with arginase deficiency, Lancet 2: 748 (1969).
H. G. Terheggen, A. Lowenthal, F. Lavinha and J. P. Colombo, Familial hyperargininemia, Arch. Dis. Child. 50:57 (1975).
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).
D. Cederbaum, K. N. F. Shaw and M. Valente, Hyperargininemia, J. Pediatr. 90:569 (1977).
S. E. Snyderman, C. Sansaricq, W. J. Chen, P. M. Norton and S. V. Phansalkar, Argininemia, J. Pediatr. 90:563 (1977).
V. V. Michels and A. L. Beaudet, Arginase deficiency in multiple tissues in argininemia, Clin. Genet. 13:61 (1978).
S. E. Snyderman, C. Sansaricq, P. M. Norton and F. Goldstein, Argininemia treated from birth, J. Pediatr. 95:61 (1979).
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).
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).
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).
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).
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).
W. M. Pardridge, Lysine supplementation in hyperargininemia, J. Pediatr. 91:1032 (1977).
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).
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).
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).
K. Tada, K. Okuda, K. Watanabe, Y. Iimura and S. Yamada, A new method for screening for hyperammonemia, Eur. J. Pediatr. 130:105 (1979).
A. Mondzac, G. E. Ehrlich and J. E. Seegmiller, An enzymatic determination of ammonia in biological fluids, J. Lab. & Clin. Med. 66:526 (1965).
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).
T. Adachi, A. Tanimura and M. Asahina, A colorimetric determination of orotic acid, J. Vitaminol. 9:217 (1963).
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).
Author information
Authors and Affiliations
Editor information
Editors and Affiliations
Rights and permissions
Copyright information
© 1985 Springer Science+Business Media New York
About this chapter
Cite this chapter
Mizutani, N., Maehara, M., Hayakawa, C., Kato, T., Watanabe, K., Suzuki, S. (1985). Hyperargininemia: Treatment with Sodium Benzoate and Phenylacetic Acid. In: Mori, A., Cohen, B.D., Lowenthal, A. (eds) Guanidines. Springer, Boston, MA. https://doi.org/10.1007/978-1-4757-0752-6_19
Download citation
DOI: https://doi.org/10.1007/978-1-4757-0752-6_19
Publisher Name: Springer, Boston, MA
Print ISBN: 978-1-4757-0754-0
Online ISBN: 978-1-4757-0752-6
eBook Packages: Springer Book Archive