From Big Medical Encyclopedia

AMINOACIDURIA ARGININEAMBER — the disease connected with existence of the enzymatic block in a cycle of synthesis of urea therefore splitting arginineamber to - you is broken. Lack of an argininsuktsinaza leads to accumulation in blood and cerebrospinal liquid arginineamber to - you and her predecessors.

And. and. it is described in 1958. J. D. Allan. Frequency of a disease in population is not established.

Symptoms of a disease are found in the first weeks of life of the child and are characterized by frequent vomiting, spasms, temperature increase, a hepatomegalia. Further lag in mental development, the neurologic disturbances, fragility and a xerasia growing at bunches are found.

Symptomatic treatment. Certain success brings purpose of a diet with restriction of proteins and arginine. The forecast is adverse.

See also Aminoaciduria .

Bibliography: Allan J. D. and. lake of A disease, probably hereditary, characterized by severe mental deficiency and a constant gross abnormality of aminoacid metabolism, Lancet, v. 1, p. 182, 1958; Armstrong M. D., Yates K. N. a. Stemmermann M. G. An occurrence of argininosuccinic aciduria, Pediatrics, v. 33, p. 280, 1964; Grosfeld J. C. M., Mighorst J. A. a. Mооhuуsen T. M. G. F. Argininosuccinic aciduria in monilethrix, Lancet, v. 2, p. 789, 1964; Levin B., Mac of Kau M. M. and. Oberholzer V. G. Argininosuccinic aciduria, Arch. Dis. Childh., v. 36, p. 622, 1961; Tomlinson S. Westall R. G. Argininosuccinic'aciduria, Clin. Sci., v. 26, p. 261, 1964; Wallis K., Beer S. Fischl J. A family affected by argininosuccinic aciduria, Helv. paediat. Acta, v. 18, p. 339, 1963; Westall R. G. Argininosuccinic aciduria, Biochem. J., v. 77, p. 135, 1960, bibliogr.

Yu. A. Knyazev.