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Tissue Differences in the Expression of Mutations and Polymorphisms in the GRHPR Gene and Implications for Diagnosis of Primary Hyperoxaluria Type 2

Clinical Biochemistry, UCL Hospitals, London, United Kingdom

^aAddress correspondence to this author at: Clinical Biochemistry, UCL Hospitals, 60 Whitfield St., London W1T 4EU, United Kingdom. Fax 020-7380-9584; e-mail gill.rumsby@uclh.nhs.uk.

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To the Editor:

Primary hyperoxaluria type 2 (PH2; OMIM 260000) is an inherited disease of endogenous oxalate overproduction arising from mutations in the GRHPR gene encoding glyoxylate reductase. The disease typically presents with urolithiasis or recurrent urinary tract infections and increased urinary oxalate (1). The diagnosis may be supported by L-glyceraciduria, although this does not occur in all cases (2). Definitive diagnosis is currently based on demonstration of diminished glyoxylate reductase activity in a liver biopsy (3), although DNA analysis offers a noninvasive method.

The GRHPR gene maps to the centromeric region of chromosome 9 (4) and, from Northern blot analysis(5), is ubiquitously expressed, although the bulk of enzyme activity is found in the liver (3)(5). Among the described mutations and polymorphisms (5)(6), c.103delG accounts for 37% of mutant alleles, allowing diagnosis of PH2 to be made by genetic testing (5). One of . . . [Full Text of this Article]

The following articles in journals at HighWire Press have cited this article:

				J. Knight, R. P. Holmes, D. S. Milliner, C. G. Monico, and S. D. Cramer Glyoxylate reductase activity in blood mononuclear cells and the diagnosis of primary hyperoxaluria type 2 Nephrol. Dial. Transplant., August 1, 2006; 21(8): 2292 - 2295. [Abstract] [Full Text] [PDF]

				G. Rumsby Is liver analysis still required for the diagnosis of primary hyperoxaluria type 2? Nephrol. Dial. Transplant., August 1, 2006; 21(8): 2063 - 2064. [Full Text] [PDF]