Urea Cycle Diseases pp 121-125 | Cite as
Argininemia: Report of a New Case and Mechanisms of Orotic Aciduria and Hyperammonemia
Abstract
Arqininemia is a rare inborn error of ureagenesis due to a deficiency of arginase activity (Terheggen et al., 1969; Terheggen, et al., 1970a; Terheggen et al., 1970b; Terheggen et al., 1975; Cederbaum et al., 1976; Snyderman et al., 1977; Cederbaum et al., 1977; Michels and Beaudet, 1978; Snyderman et al., 1979). Despite the apparent defect in enzyme activity, hyperammonemia is only intermittently observed in this disease, unlike other enzymopathies of the urea cycle. Increase in orotic acid excretion is also another biochemical characteristic of this disease (Snyderman et al., 1977; Bachmann and Colombo, 1980). However, the mechanisms of hy-perammonemia and orotic aciduria have not been thoroughly explained. The purpose of this communication is to describe clinical features at 2 hours of testing. Concentration of arginine was elevated also in cerebrospinal fluid (1.91 mg/dl, normal range; 0.15–0.55 mg/dl), orotic aciduria.
Keywords
Urea Cycle Nitrogen Load Arginase Activity Orotic Acid Ornithine TranscarbamylasePreview
Unable to display preview. Download preview PDF.
References
- Adachi, T., Tanimura, A. and Asahina, M., 1963, A colorimetric détermination of orotic acid, J. Vitaminol. 9: 217–226.CrossRefGoogle Scholar
- Bachmann, S. D. and Colombo, J. P., 1980, Diagnostic value of orotic acid excretion in heritable disorders of the urea cycle and in hyperammonemia due to organic acidurias, Eur. J. Pediat. 134: 109–113.CrossRefGoogle Scholar
- Cederbaum, S. D., Shaw, K. N. F., Spector, E. B. and SnodgrassGoogle Scholar
- P. J., 1976, Hyperargininemia with arginase deficiency in two siblings, Fifth International Congress of Human GeneticsGoogle Scholar
- Cederbaum, S. D., Shaw, K. N. F. and Valente, M., 1977, Hyperargininemia, J. Pediat. 90: 569–573.PubMedCrossRefGoogle Scholar
- Michels, V. V. and Beaudet, A. L., 1978, Arginase deficiency in multiple tissues in argininemia, Clin. Genet., 13: 61–67.Google Scholar
- Mori, M., Uchiyama, C., Miura, S., Tatibana, M. and Nagayama, E., 1980, Ornithine transcarbamylase deficiency: coexistence of active and inactive forms of enzyme, Clin. Chim. Acta 104: 291–291–299.Google Scholar
- Shih, V. E., Jones, T. C., Levy, H. L. and Madigan, P. M., 1972, Arginase deficiency in Macaca fascicularis. I. arginase activity and arginine concentration in erythrocytes and in liver, Pediat. Res., 6: 548–551.Google Scholar
- Snyderman, S. E., Sansaricq, C., Chen, W. J., Norton, P. M. and Phansalkar, S. V., 1977, Argininemia, J. Pediat. 90: 563–568.CrossRefGoogle Scholar
- Snyderman, S. E., Sansaricq, C., Norton, P. M. and Goldstein, F., 1979, Argininemia treated from birth, J. Pediat. 95: 61–63.PubMedCrossRefGoogle Scholar
- Tatibana, M. and Shigesada, K., 1976, Regulation of urea biosynthe- sis by the acetylglutamate-arginine system, in: “The UreaGoogle Scholar
- Cycle“, S. Grisolia, R. BAguena and F. Mayor, eds., pp 301313, John Wiley & Sons, New York.Google Scholar
- Terheggen, H. G., Schwenk, A., Lowenthal, A., Van Sande, M. and Colombo, J. P., 1969, Argininemia with arginase deficiency, Lancet 2: 748–749.Google Scholar
- Terheggen, H. G., Schwenk, A., Lowenthal, A., Van Sande, M. andGoogle Scholar
- Colombo, J. P., 1970a, Hyperargininämie mit Arginasedefekt. Eine neue familiäre Stoffwechselstörung. I. Klinische Befunde, Z. Kinderheilk. 107: 298–312.PubMedCrossRefGoogle Scholar
- Terheggen, H. G., Schwenk, A., Lowenthal, A., Van Sande, M. andGoogle Scholar
- Colombo, J. P., 1970b, Hyperargininämie mit Arginasedefekt. Eine neue familiäre Stoffwechselstörung. It.Biochemische Untersuchungen, Z. Kinderheilk. 107: 313–323.PubMedCrossRefGoogle Scholar
- Terheggen, H. G., Lowenthal, A., Lavinha, F. and Colombo, J. P., 1975, Familial hyperargininemia, Arch. Dis. Childh. 50: 57–62.CrossRefGoogle Scholar