Abstract
Oxalosis is the systemic deposition of calcium oxalate crystals, caused by primary hyperoxaluria type I (PH I), an autosomal recessive peroxisomal defect involving glyoxylate metabolism in the liver and leading to an excesssive synthesis of oxalate. Primary hyperoxaluria type II (or L-glyceric aciduria) is a much rarer disease caused by a different enzymatic defect and does not seem to induce oxalosis [1].
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References
Chlebeck PT, Milliner DS, Smith LH (1994) Longterm prognosis in Primary hyperoxaluria type II ( Lglyceric aciduria ). Am J Kidney Dis 23: 255–259
Latta K, Brodehl J (1990) Primary hyperoxaluria type I. Eur J Pediatr 149: 518–522
Danpure CJ (1991) Molecular and clinical heterogeneity in primary hyperoxaluria type I. Am J Kidney Dis XVII: 366–369
Leumann EP (1985) Primary hyperoxaluria: an important cause of renal failure in infancy. Int J Pediatr Nephrol 6: 13–16
Schnitzler C, Kok JA, Jacobs DWC et al (1991) Skeletal manifestations of primary oxalosis. Pediatr Nephrol 5: 193–199
Danpure CJ, Jennings PR, Watts RW (1987) Enzymological diagnosis of primary hyperoxaluria type I by measurement of hepatic alanine: glyoxylate aminotransferase activity. Lancet i: 289–292
Danpure CJ (1993) Primary hyperoxaluria type I and peroxisome-to-mitochondrion mistargeting of alanine: glyoxylate aminotransferase. Biochimie 75: 309–315
Marangela M, Petrarulo M, Vitale C, Cossedu D, Linari F (1992) Plasma and urine glycolate assays for differentiating the hyperoxaluria syndromes. J Urol 148: 986–989
Barratt TM, Kasidas G, Murdoch I, Rose GA (1991) Urinary oxalate and glycolate excretion and plasma oxalate concentration. Arch Dis Child 66: 501–503
Smith L H (1992) Hyperoxaluric states. In: Coe FL, Murray JF (eds) Disorders of bone and mineral metabolism. Raven, New York, pp 707–727
Danpure CJ, Jennings PR, Penketh R.J., Wise PJ, Cooper PJ, Rodeck C.H. (1989) Fetal liver alanine: glyoxylate aminotransferase and the prenatal diagnosis of primary hyperoxaluria type I. Prenat Diagn 9: 271–281
Leumann E, Matasovic A, Niederwieser A (1986) Primary hyperoxaluria type I: oxalate and glycolate unsuitable for prenatal diagnosis. Lancet ii: 340
Rose GA, Arthur LJH, Chambers TL, Kasidas GP, Scott IV (1982) Successful treatment of primary hyperoxaluria in a neonate. Lancet is 1298–1299
Leumann E, Hoppe B, Neuhaus T (1993) Management of primary hyperoxaluria: efficacy of oral citrate. Pediatr Nephrol 7: 207–211
Grateau G, Grünfeld JP, Beurton D, Hannedouche T, Crosnier J (1987) Post-surgical deterioration of renal function in primary hyperoxaluria. Nephrol Dial Transplant 1: 261–264
Watts RWE, Veall N, Purkiss P (1984) Oxalate dynamics and removal rates during haemodialysis and peritoneal dialysis in patients with primary hyperoxaluria and severe renal failure. Clin Sci 66: 591–597
Scheinman JJ (1991) Primary hyperoxaluria: therapeutic stategies for the 90’s. Kidney Int 40: 389–399
Broyer M, Brunner FP, Brynger H, et al (1990) Kidney transplantation in primary oxalosis: data from the EDTA Registry. Nephrol Dial Transplant 5: 332–336
Cochat P, Schärer K (1993) Should liver transplantation be performed before advanced renal insufficiency in primary hyperoxaluria type I? Pediatr Nephrol 7: 212–218
Watts RWE, Danpure CJ, De Pauw L, Toussaint C and the European Study Group on Transplantation in Hyperoxaluria Type I (1991) Combined liver-kidney and isolated liver transplantation for primary hyperoxaluria type I: the European experience. Nephrol Dial Transplant 6: 502–511
Purdue PE, Lumb MJ, Fox M, Griffo G, Hamon Benais C, Povey S, Danpure CJ (1991) Characterization and chromosomal mapping of a genomic clone encoding human alanine: glyoxylate aminotransferase. Genomics 10: 34–42
Purdue PE, Allsop J, Isaya G, Rosenberg LE, Danpure CJ (1991) Mistargeting of peroxisomal L-alanine glyoxylate aminotransferase to mitochondria in primary hyperoxaluria patients depends upon activation of a cryptic mitochondrial targeting sequence by a point mutation. Proc Natl Acad Sci USA 88: 10900–10904
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Gagnadoux, M.F., Broyer, M. (1995). Oxalosis (Primary Hyperoxaluria). In: Fernandes, J., Saudubray, JM., Van den Berghe, G., Tada, K., Buist, N.R.M. (eds) Inborn Metabolic Diseases. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-662-03147-6_40
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DOI: https://doi.org/10.1007/978-3-662-03147-6_40
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