Abstract
We have studied six known heterozygotes for ornithine transcarbamylase (McKusick 31125; OTC) deficiency. All had abnormal results when tested by measurement of urine orotic acid after protein loading. Duodenal mucosa OTC assay detected fewer of the known heterozygotes but was a useful supplementary test. Urine orotic acid excretion after protein loading is influenced by age and results from women being tested must be compared with those from controls of appropriate age.
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References
Adachi, T., Tanimura, A. and Ashina, M. A colorimetric determination of orotic acid.J. Vitaminol. 9 (1963) 217
Batshaw, M. L., Road, Y., Jung, A. L., Rosenberg, L. A. and Brusilow, S. W. Cerebral dysfunction in asymptomatic carriers of ornithine transcarbamylase deficiency.N. Engl. J. Med. 302 (1980) 482
Campbell, A. G. M., Rosenberg, L. E., Snodgrass, P. J. and Nuzum, C. T. Ornithine transcarbamylase deficiency: A cause of lethal hyperammonemia in males.N. Engl. J. Med. 1 (1973) 288
Cathelineau, L., Saudubray, J. M. and Polonovski, C. Heterozygous mutations of the structural gene of human ornithine carbamyltransferase as observed in five personal cases.Enzyme 18 (1974) 103
Edwards, K. D. G. and Whyte, H. M. Plasma creatinine level and creatinine clearance as tests of renal function.Aust. Ann. Med. 8 (1959) 218
Goldstein, A. S., Hoogenraad, N. J., Johnson, J. D., Fukanaga, K., Swierczewski, E., Cann, H. M. and Sunshine, P. Metabolic and genetic studies of a family with ornithine transcarbamylase deficiency.Pediatr. Res. 8 (1975) 5
Hokanson, J. T., O'Brien, W. E., Idemoto, J. and Schafer, I. A. Carrier detection in ornithine transcarbamylase deficiency.J. Pediatr. 93 (1978) 75
Hsia, Y. E. Inherited hyperammonemic syndromes.Gastroenterology 67 (1974) 347
Levin, B., Dobbs, R. H., Burgess, E. A. and Palmer, T. Hyperammonemia. A variant type of deficiency of liver ornithine transcarbamylase.Arch. Dis. Child. 44 (1969a) 162
Levin, B., Oberholzer, V. G. and Sinclair, L. Biochemical investigations of hyperammonaemia.Lancet 2 (1969b) 170
MacLeod, P., Mackenzie, S. and Scriver, C. R. Partial ornithine carbamyl transferase deficiency: an inborn error of the urea cycle presenting as orotic aciduria in a male infant.Can. Med. Assoc. J. 107 (1972) 405
Nadler, H. L. and Gerbie, A. B. Enzymes in non-cultured amniotic fluid cells.Am. J. Obstet. Gynecol. 103 (1969) 710
Okonkwo, P. O. and Kinsella, J. E. Orotic acid in food milk powders.Am. J. Clin. Nutr. 22 (1969) 532
Palmer, T., Oberholzer, V. G., Burgess, E. A., Butler, L. J. and Levin, B. Hyperammonaemia in 20 families. Biochemical and genetical survey, including investigation on 3 new families.Arch. Dis. Child. 49 (1974) 443
Saudubray, J. M., Cathelineau, L., Laugier, J. N., Charpentier, C., Lejuene, J. A. and Mozziconacci, P. Hereditary ornithine transcarbamylase deficiency. Report of two male cases with residual enzymatic activity.Acta Paediatr. Scand. 64 (1975) 464
Short, E. M., Conn, H. O., Snodgrass, P. J., Campbell, A. G. M. and Rosenberg, L. E. Evidence for X-linked dominant inheritance of ornithine transcarbamylase deficiency.N. Engl. J. Med. 288 (1973) 7
Sinatra, F., Yoshida, T., Applebaum, M., Mason, W., Hoogenraad, N. J. and Sunshine, P. Abnormalities of carbamyl phosphate synthetase and ornithine transcarbamylase in liver of patients with Reye's syndrome.Pediatr. Res. 9 (1975) 829
Van der Heiden, C., Desplanque, J. and Bakker, H. D. Some kinetic properties of liver ornithine carbamyl transferase (OCT) in a patient with OCT deficiency.Clin. Chim. Acta. 80 (1977) 519
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Haan, E.A., Danks, D.M., Grimes, A. et al. Carrier detection in ornithine transcarbamylase deficiency. J Inherit Metab Dis 5, 37–40 (1982). https://doi.org/10.1007/BF01799752
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DOI: https://doi.org/10.1007/BF01799752