References
Aebi, H. E. and Wyss, S. R. Acatalasemia. In Stanbury, J. B., Wyngaarden, J. B. and Fredrickson, D. S. (Eds.)The Metabolic Basis of Inherited Disease 4th edn., McGraw-Hill, New York, 1978, pp. 1792–1807
Allsop, J., Jennings, P. R. and Danpure, C. J. A new micro-assay for human liver alanine: glyoxylate aminotransferase.Clin. Chim. Acta 170 (1987) 187–194
Archer, H. E., Dormer, A. E., Scowen, E. F. and Watts, R. W. E. Primary hyperoxaluria.Lancet 2 (1957) 320–322
Archer, H. E., Dormer, A. E., Scowen, E. F. and Watts, R. W. E. Observations on the possible genetic basis of primary hyperoxaluria.Ann. Hum. Genet. 22 (1958) 373–379
Asker, H. and Davies, D. Purification of rat liver enzymes involved in the oxidation of glyoxylate.Biochim. Biophys. Acta 761 (1983) 103–108
Bourke, E., Frindt, G., Flynn, P. and Schreiner, G. E. Primary hyperoxaluria with normal alpha-ketoglutarate: glyoxylate carboligase activity.Ann. Intern. Med. 76 (1972) 279–284
Cooper, P. J., Danpure, C. J., Wise, P. J. and Guttridge, K. M. Immuno-electron micro-scopic localization of alanine-glyoxylate aminotransferase in normal human liver and type 1 hyperoxaluric liver.Biochem. Soc. Trans. 16 (1988a) 627–628
Cooper, P. J., Danpure, C. J., Wise, P. J. and Guttridge, K. M. Immunocytochemical localization of human hepatic alanine: glyoxylate aminotransferase in control subjects and patients with primary hyperoxaluria type 1.J. Histochem. Cytochem. 36 (1988b) 1285–1294
Cooper, P. J., Danpure, C. J. and Penketh, R. J. Prenatal differentiation of primary hyperoxaluria type 1 phenotypes in the first trimester using immuno-electron microscopy.Clin. Sci. (1989) MRS abstract
Crawhall, J. C. and Watts, R. W. E. The metabolism of [1-14C]glyoxylate by the liver mitochondria of patients with primary hyperoxaluria and non-hyperoxaluric subjects.Clin. Sci. 23 (1962a) 163–168
Crawhall, J. C. and Watts, R. W. E. The metabolism of glyoxylate by human and rat liver mitochondria.Biochem. J. 85 (1962b) 163–171
Danpure, C. J. Peroxisomal alanine: glyoxylate aminotransferase and prenatal diagnosis of primary hyperoxaluria type 1.Lancet 2 (1986) 1168
Danpure, C. J. and Jennings, P. R. Peroxisomal alanine: glyoxylate aminotransferase deficiency in primary hyperoxaluria type 1.FEBS Lett. 201 (1986a) 20–24
Danpure, C. J. and Jennings, P. R. Alanine: glyoxylate and serine: pyruvate aminotransferases in primary hyperoxaluria type 1.Biochem. Soc. Trans. 14 (1986b) 1059–1060
Danpure, C. J. and Jennings, P. R. Deficiency of peroxisomal alanine: glyoxylate aminotransferase in primary hyperoxaluria type 1. In Fahimi, H. D. and Sies, H. (Eds.)Peroxisomes in Biology and Medicine, Springer-Verlag, Berlin and Heidelberg, 1987, pp. 374–378
Danpure, C. J. and Jennings, P. R. Further studies on the activity and subcellular distribution of alanine: glyoxylate aminotransferase in the livers of patients with primary hyperoxaluria type 1.Clin. Sci. 75 (1988) 315–322
Danpure, C. J., Purkiss, P., Jennings, P. R. and Watts, R. W. E. Mitochondrial damage and the subcellular distribution of 2-oxoglutarate: glyoxylate carboligase in normal human and rat liver and in the liver of a patient with primary hyperoxaluria type I.Clin. Sci. 70 (1986) 417–425
Danpure, C. J., Jennings, P. R. and Watts, R. W. E. The enzymological diagnosis of primary hyperoxaluria type 1 by measurement of hepatic alanine: glyoxylate aminotransferase activity.Lancet 1 (1987) 289–291
Danpure, C. J., Jennings, P. R., Penketh, R. J., Wise, P. J. and Rodeck, C. H. Prenatal exclusion of primary hyperoxaluria type 1.Lancet 1 (1988) 367
Danpure, C. J., Jennings, P. R., Penketh, R. J., Wise, P. J., Cooper, P. J. and Rodeck, C. H. Fetal liver alanine: glyoxylate aminotransferase and the prenatal diagnosis of primary hyperoxaluria type 1.Prenat. Diagn. 9 (1989a) in press
Danpure, C. J., Cooper, P. J., Wise, P. J. and Jennings, P. R. An enzyme trafficking defect in two patients with primary hyperoxaluria type 1: peroxisomal alanine: glyoxylate aminotransferase rerouted to mitochondria.J. Cell Biol. 108 (1989b) in press
Danpure, C. J., Cooper, P. J., Jennings, P. R., Wise, P. J., Penketh, R. J. and Rodeck, C. H. Enzymatic prenatal diagnosis of primary hyperoxaluria type 1: potential and limitations.J. Inher. Metab. Dis. 12 Suppl. 2 (1989c) 286–288
Dean, B. M., Griffin, W. J. and Watts, R. W. E. Primary hyperoxaluria.Lancet 1 (1966) 406
Dean, B. M., Watts, R. W. E. and Westwick, W. J. Metabolism of [1-14C]glyoxylate, [1-14C]glycollate, [1-14C]glycine and [2-14C]glycine by homogenates of kidney and liver tissue from hyperoxaluric and control subjects.Biochem. J. 105 (1967) 701–707
De Duve, C. and Baudhuin, P. Peroxisomes (microbodies and related particles).Physiol. Rev. 46 (1966) 323–357
Deodhar, S. D., Tung, K. S. K., Zuhlke, V. and Nakamoto, S. Renal homotransplantation in a patient with primary familial oxalosis.Arch. Pathol. 87 (1969) 118–124
Duncan, R. J. S. and Tipton, K. F. The oxidation and reduction of glyoxylate by lactate dehydrogenase.Eur. J. Biochem. 11 (1969) 58–61
Faber, S. R., Feitler, W. W., Bleiler, R. E., Ohlson, M. A. and Hodges, R. E. The effects of an induced pyridoxine and pantothenic acid deficiency on excretions of oxalic and xanthurenic acids in the urine.Am. J. Clin. Nutr. 12 (1963) 406–412
Frederick, E. W., Rabkin, M. T., Richie, R. H. and Smith, L. H. Studies on primary hyperoxaluria 1.In vivo demonstration of a defect in glyoxylate metabolism.N. Engl. J. Med. 269 (1963) 821–829
Fry, D. W. and Richardson, K. E. Isolation and characterization of glycolic acid oxidase from human liver.Biochim. Biophys. Acta 568 (1979) 135–144
Gershoff, S. N. Vitamin B6 and oxalate metabolism.Vitamins Hormones 22 (1964) 581–589
Gershoff, S. N., Faragalla, F. F., Nelson, D. A. and Andrus, S. B. Vitamin B6 deficiency and oxalate nephrocalcinosis in the cat.Am. J. Med. 27 (1959) 72–80
Gibbs, D. A. and Watts, R. W. E. The action of pyridoxine in primary hyperoxaluria.Clin. Sci. 38 (1970) 277–286
Gibbs, D. A. and Watts, R. W. E. The identification of enzymes that catalyse the oxidation of glyoxylate to oxalate in the 100000 g supernatant fraction of human hyperoxaluric and control liver and heart tissue.Clin. Sci. 44 (1973) 227–241
Goldfischer, S., Moore, C. L., Johnson, A. B., Spiro, A. J., Valsamis, M. P., Wisniewski, H. K., Ritch, R. H., Norton, W. T., Rapin, I. and Gartner, L. M. Peroxisomal and mitochondrial defects in the cerebro-hepato-renal syndrome.Science 182 (1973) 62–64
Hall, H. E., Scowen, E. F. and Watts, R. W. E. Clinical manifestations of primary hyperoxaluria.Arch. Dis. Child. 35 (1960) 108–112
Hockaday, T. D. R., Clayton, J. E., Frederick, E. W. and Smith, L. H. Primary hyperoxaluria.Medicine 43 (1964) 315–345
Hockaday, T. D. R., Clayton, J. E. and Smith, L. H. The metabolic error in primary hyperoxaluria.Arch. Dis. Child. 40 (1965) 485–491
Hsieh, B. and Tolbert, N. E. Glyoxylate aminotransferase in peroxisomes from rat liver and kidney.J. Biol. Chem. 251 (1976) 4408–4415
Iancu, T. C. and Danpure, C. J. Primary hyperoxaluria type 1: ultrastructural observations in liver biopsies.J. Inher. Metab. Dis. 10 (1987) 330–338
Kamoda, N., Minatogawa, Y., Nakamura, M., Nakanishi, J., Okuno, E. and Kido, R. The organ distribution of human alanine:2-oxoglutarate aminotransferase and alanine: glyoxylate aminotransferase.Biochem. Med. 23 (1980) 25–34
Klauwers, J., Wolff, P. L. and Cohn, R. Failure of renal transplantation in primary oxalosis.J. Am. Med. Assoc. 209 (1969) 551
Koch, B., Irvine, A. H., Barr, J. R. and Poznanski, W. J. Three kidney transplantations in a patient with primary hereditary hyperoxaluria.Can. Med. Assoc. J. 106 (1972) 1323–1331
Koch, J., Stockstad, E. L. R., Williams, H. E. and Smith, L. H. Deficiency of 2-oxoglutarate: glyoxylate carboligase activity in primary hyperoxaluria.Proc. Natl. Acad. Sci. USA 57 (1967) 1123–1129
Leumann, E., Matasovic, A. and Niederwieser, A. Primary hyperoxaluria type 1.Lancet 2 (1986) 340
Liao, L. L. and Richardson, K. E. The inhibition of oxalate biosynthesis in isolated perfused rat liver byDL-phenyllactate andn-heptanoate.Arch. Biochem. Biophys. 154 (1973) 68–75
McKusick, V. A.Mendelian Inheritance in Man. Catalogs of autosomal dominant, autosomal recessive and X-linked phenotypes, John Hopkins University Press, Baltimore and London, 7th edn., 1986
Morgan, S. H., Purkiss, P., Watts, R. W. E. and Mansell, M. A. Oxalate dynamics in chronic renal failure. A comparison with normal subjects and patients with primary hyperoxaluria.Nephron 46 (1987) 253–257
Noguchi, T. and Takada, Y. Purification and properties of peroxisomal pyruvate (glyoxylate) aminotransferase from rat liver.Biochem. J. 175 (1978a) 765–768
Noguchi, T. and Takada, Y. Peroxisomal localization of serine: pyruvate aminotransferase in human liver.J. Biol. Chem. 253 (1978b) 7598–7600
Noguchi, T. and Takada, Y. Peroxisomal localization of alanine: glyoxylate aminotransferase in human liver.Arch. Biochem. Biophys. 196 (1979) 645–647
Noguchi, T., Minatogawa, Y., Takada, Y., Okuno, E. and Kido, R. Subcellular distribution of pyruvate-(glyoxylate) aminotransferases in rat liver.Biochem. J. 170 (1978a) 173–175
Noguchi, T., Okuno, E., Takada, Y., Minatogawa, Y., Okai, K. and Kido, R. Characteristics of hepatic alanine-glyoxylate aminotransferase in different mammalian species.Biochem. J. 169 (1978b) 113–122
Noguchi, T., Takada, Y. and Oota, Y. Intra-peroxisomal and intra-mitochondrial localization, and assay of pyruvate (glyoxylate) aminotransferase from rat liver.Hoppe-Seyler's Z. Physiol. Chem. 360 (1979) 919–927
O'Fallon, J. V. and Brosemer, R. W. Cellular localization of alpha-ketoglutarate: glyoxylate carboligase in rat tissues.Biochem. Biophys. Acta 499 (1977) 321–328
Okuno, E., Minatogawa, Y., Nakanishi, J., Nakamura, M., Kamoda, N., Makino, M. and Kido, R. The subcellular distribution of alanine-glyoxylate aminotransferase and serinepyruvate aminotransferase in dog liver.Biochem. J. 182 (1979) 877–879
Rodeck, C. H., Patrick, A. D., Pembrey, M. E., Tzannatos, C. and Whitfield, A. E. Fetal liver biopsy for prenatal diagnosis of ornithine carbamyl transferase deficiency.Lancet 2 (1982) 297–300
Romano, M. and Cerra, A. The action of crystalline lactate dehydrogenase from rabbit muscle on glyoxylate.Biochim. Biophys. Acta 177 (1969) 421–426
Rowsell, E. V., Snell, K., Carnie, J. A. and Rowsell, K. V. The subcellular distribution of rat liverL-alanine: glyoxylate aminotransferase in relation to a pathway for glucose formation involving glyoxylate.Biochem. J. 127 (1972a) 155–165
Rowsell, E. V., Carnie, J. A., Snell, K. and Taktak, B. Assays for glyoxylate aminotransferase activities.Int. J. Biochem. 3 (1972b) 247–257
Sawaki, S., Hattori, H. and Yamada, K. Glyoxylate dehydrogenase activity of lactate dehydrogenase.J. Biochem. 62 (1967) 263–268
Saxon, A. Hemodialysis for oxaluric renal failure.N. Engl. J. Med. 288 (1973) 526
Schlossberg, M. A., Bloom, R. J., Richert, D. A. and Westerfield, W. W. Carboligase activity of alpha-ketoglutarate dehydrogenase.Biochemistry 9 (1970) 1148–1153
Schutgens, R. B. H., Heymans, H. S. A., Wanders, R. J. A., van den Bosch, H. and Tager, J. M. Peroxisomal disorders: a newly recognised group of genetic diseases.Eur. J. Pediatr. 144 (1986) 430–440
Schutgens, R. B. H., Wanders, R. J. A., Schram, A. W., van den Bosch, H., Heymans, H. S. A., Schrakamp, G. and Tager, J. M. Peroxisomal disorders: biochemical characteristics and genetic relationship between the different diseases. In Vogel, F. and Sperlig, K. (Eds.)Human Genetics, Springer-Verlag, Berlin and Heidelberg, 1987, pp. 360–368
Scowen, E. F., Watts, R. W. E. and Hall, E. G. Further observations on the genetic basis of primary hyperoxaluria.Ann. Hum. Genet. 23 (1959) 367–381
Smith, L. H. and Williams, H. E. Treatment of primary hyperoxaluria.Mod. Treat. 4 (1967) 522
Suzuki, S., Suga, T. and Niinobe, S. Studies on peroxisomes. 4. Intracellular localization of NADH2-glyoxylate reductase in rat liver.J. Biochem. 73 (1973) 1033–1038
Takada, Y., Mori, T. and Noguchi, T. The effect of vitamin B6 deficiency on alanine: glyoxylate aminotransferase isoenzymes in rat liver.Arch. Biochem. Biophys. 229 (1984) 1–6
Thompson, G. N., Purkiss, P. and Danpure, C. J. The subcellular metabolism of glyoxylate in primary hyperoxaluria type 1: the relationship between glycine production and oxalate overproduction.J. Inher. Metab. Dis. 11 Suppl 2 (1988) 212–214
Thompson, J. S. and Richardson, K. E. Isolation and characterization of a glutamate: glycine transaminase from human liver.Arch. Biochem. Biophys. 117 (1966) 599–603
Thompson, J. S. and Richardson, K. E. Isolation and characterization of anL-alanine: glyoxylate aminotransferase from human liver.J. Biol. Chem. 242 (1967) 3614–3619
Tolbert, N. E. Peroxisomal redox enzymes.Meth. Enzymol. 52 (1978) 493–505
Tolbert, N. E. Metabolic pathways in peroxisomes and glyoxysomes.Ann. Rev. Biochem. 50 (1981) 133–157
Vandor, S. L. and Tolbert, N. E. Glyoxylate metabolism by isolated rat liver peroxisomes.Biochim. Biophys. Acta 215 (1970) 449–455
Walls, J., Morley, A. R. and Kerr, D. N. S. Primary hyperoxaluria in adult siblings: with some observations on the role of regular haemodialysis therapy.Br. J. Urol. 41 (1969) 546–553
Wanders, R. J. A., van Roermund, C. W. T., Westra, R., Schutgens, R. B. H., van der Ende, M. A., Tager, J. M., Monnens, L. A. H., Baadenhuysen, H., Govaerts, L., Przyrembel, H. and Wolff, E. D. Alanine: glyoxylate aminotransferase and the urinary excretion of oxalate and glycolate in hyperoxaluria type 1 and the Zellweger syndrome.Clin. Chim. Acta 165 (1987) 311–319
Warren, W. A. Catalysis of both oxidation and reduction of glyoxylate by pig heart lactate dehydrogenase isozyme 1.J. Biol. Chem. 245 (1970) 1675–1681
Watts, R. W. E., Chalmers, R. A., Gibbs, D. A., Lawson, A. M., Purkiss, P. and Spellacy, E. Studies on some possible biochemical treatments of primary hyperoxaluria.Q. J. Med. 48 (1979) 259–272
Watts, R. W. E., Veall, N. and Purkiss, P. Oxalate dynamics and removal rates during haemodialysis and peritoneal dialysis in patients with primary hyperoxaluria and severe renal failure.Clin. Sci. 66 (1984) 591–597
Watts, R. W. E., Calne, R. Y., Williams, R., Mansell, M. A., Purkiss, P. and Rolles, K. Primary hyperoxaluria type 1: attempted treatment by combined hepatic and renal transplantation.Q. J. Med. 57 (1985) 697–703
Watts, R. W. E., Calne, R. Y., Rolles, K., Danpure, C. J., Morgan, S. H., Mansell, M. A., Williams, R. and Purkiss, P. Successful treatment of primary hyperoxaluria type 1 by combined hepatic and renal transplantation.Lancet 1 (1987) 474–475
Wickham, J. E. A. Indications for surgical treatment and surgery for renal stones. In Rose, G. A. (Ed.)Urinary Stones: Clinical and Laboratory Aspects, MTP Press, Lancaster, 1982, pp. 23–66
Williams, H. E. and Smith, L. H.L-Glyceric aciduria: a new genetic variant of primary oxaluria.N. Engl. J. Med. 278 (1968) 233–239
Williams, H. E. and Smith, L. H. Primary hyperoxaluria. In Stanbury, J. B., Wyngaarden, J. B., Fredrickson, D. S., Goldstein, J. L. and Brown, M. S. (Eds.)The Metabolic Basis of Inherited Disease, 5th edn., McGraw-Hill, New York, 1983, pp. 204–228
Williams, H. E., Wilson, K. M. and Smith, L. H. Studies on primary hyperoxaluria. 3. Transamination reactions of glyoxylate in human tissue preparations.J. Lab. Clin. Med. 70 (1967) 494–502
Wise, P. J., Danpure, C. J. and Jennings, P. R. Immunological heterogeneity of hepatic alanine: glyoxylate aminotransferase in primary hyperoxaluria type 1.FEBS Lett. 222 (1987) 17–20
Wyngaarden, J. B. and Elder, T. D. Primary hyperoxaluria and oxalosis. In Stanbury, J. B., Wyngaarden, J. B. and Fredrickson, D. S. (Eds.)The Metabolic Basis of Inherited Disease, 2nd edn., McGraw-Hill, New York, 1966, pp. 189–212
Zarembski, P. M., Rosen, S. M. and Hodgkinson, A. Dialysis in the treatment of primary hyperoxaluria.Br. J. Urol. 41 (1969) 530–533
de Zegher, F. E., Wolff, E. D., van der Heijden, A. J. and Sukhai, R. N. Oxalosis in infancy.Clin. Nephrol. 22 (1984) 114–120
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
Danpure, C.J. Recent advances in the understanding, diagnosis and treatment of primary hyperoxaluria type 1. J Inherit Metab Dis 12, 210–224 (1989). https://doi.org/10.1007/BF01800727
Issue Date:
DOI: https://doi.org/10.1007/BF01800727