Abstract
The first patient of Turkish descent with hyperdibasicaminoaciduria is described. Recurrent diarrhea was observed only during the first three months of life. The infant exhibited low plasma levels of ornithine and arginine. Intestinal absorption of lysine was decreased. Hyperammonemia was noticed only after an i.v. alanine load. It was prevented by addition of arginine.
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Armstrong, M. D., Robinow, M.: A case of hyperlysinemia: Biochemical and clinical observations. Pediatrics 39, 546–554 (1967)
Awrich, A. E., Stackhouse, W. J., Cantrell, J. E., Patterson, J. H., Rudman, D.: Hyperdibasicaminoaciduria, hyperammonemia, and growth retardation: Treatment with arginine, lysine and citrulline. J. Pediatr. 87, 731–738 (1975)
Brodehl, J.: Der renale Transport der Aminosäuren im Säuglings- und Kindesalter. Archiv für Kinderheilkunde, Beiheft 61 (1969)
Brown, J. H., Fabre, L. F., Farell, G. L., Adams, E. D.: Hyperlysinuria with hyperammonemia. A new metabolic disorder. Am. J. Dis Child. 124, 127–132 (1972)
Bürgi, W., Richterich, R., Colombo, J. P.: L-lysine dehydrogenase deficiency in a patient with congenital lysine intolerance. Nature 211, 854–855 (1966)
Carson, N. A. J., Redmond, D. A. B.: Lysinuric protein intolerance. Ann. Clin. Biochem. 14, 135 (1977)
Chan, H., Billmeier, G. J., Jr., Molinary, S. V., Tucker, H. N., Shin, B.-C., Schaffer, A., Cavallo, K.: Prolonged coma and isoelectric electroencephalogram in a child with lysinuric protein intolerance. J. Pediat. 91, 79–81 (1977)
Colombo, J. P., Richterich, R., Donath, A., Spahr, A., Rossi, E.: Congenital lysine intolerance with periodic ammonia intoxication. Lancet 1964I, 1014–1015
Colombo, J. P., Bürgi, W., Richterich, R., Rossi, E.: Congenital lysine intolerance with periodic ammonia intoxication. A defect in lysine degradation. Metabolism 16, 910–925 (1967)
Colombo, J. P.: Congenital disorders of the urea cycle and ammonia detoxication. Monographs in Paediatrics 1, 100 (1971)
Da Fonseca-Wollheim, F.: Bedeutung von Wasserstoffionenkonzentration und ADP-Zusatz bei der Ammoniakbestimmung mit Glutamatdehydrogenase. Z. Klin. Chem. Klin. Biochem. 11, 421–425 (1973)
Da Fonseca-Wollheim, F.: Direkte Plasmaammoniakbestimmung ohne Enteiweißung. Z. Klin. Chem. Klin. Biochem. 11, 426–431 (1973)
Ghadimi, H., Binnington, V. I., Pecora, P.: Hyperlysinemia associated with retardation. N. Engl. J. Med. 273, 723–729 (1965)
Kato, T., Tanaka, E., Horisawa, S.: Hyperdibasicaminoaciduria and hyperammonemia in familial protein intolerance. Am. J. Dis. Child. 130, 1340–1344 (1976)
Kekomäki, M., Visakorpi, J. K., Perheentupa, J., Saxén, L.: Familial protein intolerance with deficient transport of basic amino acids. An analysis of 10 patients. Acta Paediat. Scand. 56, 617–630 (1967))
Kekomäki, M., Räihä, N. C. R., Perheentupa, J.: Enzymes of urea synthesis in familial protein intolerance with deficient transport of basic amino acids. Acta Paediat. Scand. 56, 631–636 (1967)
Kekomäki, M., Toivakka, E., Häkkinen, V., Salaspuro, M.: Familial protein intolerance with deficient transport of basic amino acids. Report on an adult patient with chronic hyperammonemia. Acta Med. Scand. 183, 357–359 (1968)
Kekomäki, M.: Intestinal absorption of l-arginine and l-lysine in familial protein intolerance. Ann. Paediat. Fenn. 14, 18–22 (1968)
Kihara, H., Valente, M., Porter, M. T., Fluharty, A. L.: Hyperdibasicaminoaciduria in a mentally retarded homozygote with a peculiar response to phenothiazines. Pediatrics 51, 223–229 (1973)
Malmquist, J., Hetter, B.: Leucocyte glutaminase in familial protein intolerance. Lancet 1970II, 129–130
Malmquist, J., Jagenburg, R., Lindstedt, G.: Familial protein intolerance. Possible nature of enzyme defect. N. Engl. J. Med. 284, 997–1002 (1971)
Norio, R., Perheentupa, J., Kekomaki, M., Visakorpi, J. K.: Lysinuric protein intolerance, an autosomal recessive disease. A genetic study of 10 Finnish families. Clin. Genet. 2, 214–222 (1971)
Oyanagi, K., Miura, R., Yamanouchi, T.: Congenital lysinuria: A new inherited transport disorder of dibasic amino acids. J. Pediat. 77, 259–266 (1970)
Perheentupa, J., Visakorpi, J. K.: Protein intolerance with deficient transport of basic aminoacids. Another inborn error of metabolism. Lancet 1965II, 813–816
Simell, O., Perheentupa, J.: Renal handling of diamino acids in lysinuric protein intolerance. J. Clin. Invest. 54, 9–17 (1974)
Simell, O., Perheentupa, J., Rapola, J., Visakorpi, J. K., Eskelin, L.-E.: Lysinuric protein intolerance. Am. J. Med. 59, 229–240 (1975)
Spackman, D. H., Stein, W. H., Moore, S.: Automatic recording apparatus for use in the chromatography of amino acids. Anal. Chem. 30, 1190–1206 (1958)
Whelan, D. T., Scriver, C. R.: Hyperdibasicaminoaciduria: An inherited disorder of amino acid transport. Pediat. Res. 2, 525–534 (1968)
Woody, N. C.: Hyperlysinemia. Am. J. Dis Child. 108, 543–553 (1964)
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Endres, W., Zoulek, G. & Schaub, J. Hyperdibasicaminoaciduria in a Turkish infant without evident protein intolerance. Eur J Pediatr 131, 33–41 (1979). https://doi.org/10.1007/BF00442783
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DOI: https://doi.org/10.1007/BF00442783