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MeSH Review

Hyperoxaluria, Primary

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Disease relevance of Hyperoxaluria, Primary


High impact information on Hyperoxaluria, Primary


Chemical compound and disease context of Hyperoxaluria, Primary


Biological context of Hyperoxaluria, Primary

  • An intronic duplication in the alanine: glyoxylate aminotransferase gene facilitates identification of mutations in compound heterozygote patients with primary hyperoxaluria type 1 [12].
  • We report here the identification of a duplication within the first intron of the gene encoding human alanine:glyoxylate aminotransferase (AGT); this duplication is closely linked to two point mutations associated with peroxisome-to-mitochondrion mistargeting of AGT in primary hyperoxaluria type 1 (PH1) patients [12].
  • We describe a novel missense mutation (A112D) and polymorphism (V326I) in the human AGT gene in two black African patients with primary hyperoxaluria type 1, an autosomal recessive disease resulting from a deficiency of the liver peroxisomal enzyme alanine:glyoxylate aminotransferase (AGT; EC [13].
  • In order to identify additional genotypes in primary hyperoxaluria type 1, we sequenced the AGXT genes of 9 patients [14].
  • Maternal isodisomy of the telomeric end of chromosome 2 is responsible for a case of primary hyperoxaluria type 1 [15].

Anatomical context of Hyperoxaluria, Primary


Gene context of Hyperoxaluria, Primary


Analytical, diagnostic and therapeutic context of Hyperoxaluria, Primary


  1. Successful treatment of infantile type I primary hyperoxaluria complicated by pyridoxine toxicity. de Zegher, F., Przyrembel, H., Chalmers, R.A., Wolff, E.D., Huijmans, J.G. Lancet (1985) [Pubmed]
  2. Mammalian alanine/glyoxylate aminotransferase 1 is imported into peroxisomes via the PTS1 translocation pathway. Increased degeneracy and context specificity of the mammalian PTS1 motif and implications for the peroxisome-to-mitochondrion mistargeting of AGT in primary hyperoxaluria type 1. Motley, A., Lumb, M.J., Oatey, P.B., Jennings, P.R., De Zoysa, P.A., Wanders, R.J., Tabak, H.F., Danpure, C.J. J. Cell Biol. (1995) [Pubmed]
  3. Reversal of cardiac dysfunction secondary to type 1 primary hyperoxaluria after combined liver-kidney transplantation. Rodby, R.A., Tyszka, T.S., Williams, J.W. Am. J. Med. (1991) [Pubmed]
  4. Glycolate metabolism by Hep G2 cells. Holmes, R.P., Sexton, W.J., Applewhite, J.C., Kennedy, M., Assimos, D.G. J. Am. Soc. Nephrol. (1999) [Pubmed]
  5. Plasma calcium-oxalate saturation in children with renal insufficiency and in children with primary hyperoxaluria. Hoppe, B., Kemper, M.J., Bökenkamp, A., Langman, C.B. Kidney Int. (1998) [Pubmed]
  6. Results of long-term treatment with orthophosphate and pyridoxine in patients with primary hyperoxaluria. Milliner, D.S., Eickholt, J.T., Bergstralh, E.J., Wilson, D.M., Smith, L.H. N. Engl. J. Med. (1994) [Pubmed]
  7. An inheritable anomaly of red-cell oxalate transport in "primary" calcium nephrolithiasis correctable with diuretics. Baggio, B., Gambaro, G., Marchini, F., Cicerello, E., Tenconi, R., Clementi, M., Borsatti, A. N. Engl. J. Med. (1986) [Pubmed]
  8. Response to a physiologic dose of pyridoxine in type I primary hyperoxaluria. Yendt, E.R., Cohanim, M. N. Engl. J. Med. (1985) [Pubmed]
  9. Enzymological diagnosis of primary hyperoxaluria type 1 by measurement of hepatic alanine: glyoxylate aminotransferase activity. Danpure, C.J., Jennings, P.R., Watts, R.W. Lancet (1987) [Pubmed]
  10. Identification of mutations associated with peroxisome-to-mitochondrion mistargeting of alanine/glyoxylate aminotransferase in primary hyperoxaluria type 1. Purdue, P.E., Takada, Y., Danpure, C.J. J. Cell Biol. (1990) [Pubmed]
  11. ATP-dependent degradation of a mutant serine: pyruvate/alanine:glyoxylate aminotransferase in a primary hyperoxaluria type 1 case. Nishiyama, K., Funai, T., Yokota, S., Ichiyama, A. J. Cell Biol. (1993) [Pubmed]
  12. An intronic duplication in the alanine: glyoxylate aminotransferase gene facilitates identification of mutations in compound heterozygote patients with primary hyperoxaluria type 1. Purdue, P.E., Lumb, M.J., Allsop, J., Danpure, C.J. Hum. Genet. (1991) [Pubmed]
  13. The AGT gene in Africa: a distinctive minor allele haplotype, a polymorphism (V326I), and a novel PH1 mutation (A112D) in Black Africans. Coulter-Mackie, M.B., Tung, A., Henderson, H.E., Toone, J.R., Applegarth, D.A. Mol. Genet. Metab. (2003) [Pubmed]
  14. Identification of 5 novel mutations in the AGXT gene. Basmaison, O., Rolland, M.O., Cochat, P., Bozon, D. Hum. Mutat. (2000) [Pubmed]
  15. Maternal isodisomy of the telomeric end of chromosome 2 is responsible for a case of primary hyperoxaluria type 1. Chevalier-Porst, F., Rolland, M.O., Cochat, P., Bozon, D. Am. J. Med. Genet. A (2005) [Pubmed]
  16. An enzyme trafficking defect in two patients with primary hyperoxaluria type 1: peroxisomal alanine/glyoxylate aminotransferase rerouted to mitochondria. Danpure, C.J., Cooper, P.J., Wise, P.J., Jennings, P.R. J. Cell Biol. (1989) [Pubmed]
  17. Glycolate and glyoxylate metabolism in HepG2 cells. Baker, P.R., Cramer, S.D., Kennedy, M., Assimos, D.G., Holmes, R.P. Am. J. Physiol., Cell Physiol. (2004) [Pubmed]
  18. Primary hyperoxaluria type 1 and peroxisome-to-mitochondrion mistargeting of alanine:glyoxylate aminotransferase. Danpure, C.J. Biochimie (1993) [Pubmed]
  19. Peripheral neuropathy in oxalosis. A case report with electron microscopic observations. Bilbao, J.M., Berry, H., Marotta, J., Ross, R.C. The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques. (1976) [Pubmed]
  20. Fetal liver alanine: glyoxylate aminotransferase and the prenatal diagnosis of primary hyperoxaluria type 1. Danpure, C.J., Jennings, P.R., Penketh, R.J., Wise, P.J., Cooper, P.J., Rodeck, C.H. Prenat. Diagn. (1989) [Pubmed]
  21. Primary hyperoxaluria type 1 in the Canary Islands: a conformational disease due to I244T mutation in the P11L-containing alanine:glyoxylate aminotransferase. Santana, A., Salido, E., Torres, A., Shapiro, L.J. Proc. Natl. Acad. Sci. U.S.A. (2003) [Pubmed]
  22. The gene encoding hydroxypyruvate reductase (GRHPR) is mutated in patients with primary hyperoxaluria type II. Cramer, S.D., Ferree, P.M., Lin, K., Milliner, D.S., Holmes, R.P. Hum. Mol. Genet. (1999) [Pubmed]
  23. AGXT gene mutations and their influence on clinical heterogeneity of type 1 primary hyperoxaluria. Amoroso, A., Pirulli, D., Florian, F., Puzzer, D., Boniotto, M., Crovella, S., Zezlina, S., Spanò, A., Mazzola, G., Savoldi, S., Ferrettini, C., Berutti, S., Petrarulo, M., Marangella, M. J. Am. Soc. Nephrol. (2001) [Pubmed]
  24. Evaluation of mutation screening as a first line test for the diagnosis of the primary hyperoxalurias. Rumsby, G., Williams, E., Coulter-Mackie, M. Kidney Int. (2004) [Pubmed]
  25. Long-term prognosis in primary hyperoxaluria type II (L-glyceric aciduria). Chlebeck, P.T., Milliner, D.S., Smith, L.H. Am. J. Kidney Dis. (1994) [Pubmed]
  26. Oxalate balance studies in patients on hemodialysis for type I primary hyperoxaluria. Marangella, M., Petrarulo, M., Cosseddu, D., Vitale, C., Linari, F. Am. J. Kidney Dis. (1992) [Pubmed]
  27. Oxalate dynamics and removal rates during haemodialysis and peritoneal dialysis in patients with primary hyperoxaluria and severe renal failure. Watts, R.W., Veall, N., Purkiss, P. Clin. Sci. (1984) [Pubmed]
  28. Potential for bilateral nephrectomy to reduce oxalate release after combined liver and kidney transplantation for primary hyperoxaluria type 1. Mizusawa, Y., Parnham, A.P., Falk, M.C., Burke, J.R., Nicol, D., Yamanaka, J., Lynch, S.V., Strong, R.W. Clinical transplantation. (1997) [Pubmed]
  29. Inhibition of calcium oxalate crystallisation by pentosan polysulphate in control subjects and stone formers. Norman, R.W., Scurr, D.S., Robertson, W.G., Peacock, M. British journal of urology. (1984) [Pubmed]
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