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NDT Advance Access originally published online on June 14, 2005
Nephrology Dialysis Transplantation 2005 20(8):1525-1529; doi:10.1093/ndt/gfh923
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© The Author [2005]. Published by Oxford University Press on behalf of ERA-EDTA. All rights reserved. For Permissions, please email: journals.permissions@oupjournals.org

Editorial Comment

Primary hyperoxaluria: from gene defects to designer drugs?

Christopher J. Danpure

Department of Biology, University College London, London WC1E 6BT, UK

Correspondence and offprint requests to: Professor C. J. Danpure, Department of Biology, University College London, Gower Street, London WC1E 6BT, UK. Email: c.danpure@ucl.ac.uk

Keywords: alanine:glyoxylate aminotransferase; calcium oxalate kidney stones; glyoxylate/hydroxypyruvate reductase; nephrocalcinosis; primary hyperoxaluria; urolithiasis

The first 150 words of the full text of this article appear below.



   Enzyme deficiencies and metabolic abnormalities
 
Primary hyperoxaluria is a name given to a group of hereditary disorders characterized by increased synthesis and excretion of the metabolic end-product oxalate, and deposition of insoluble calcium oxalate (CaOx) in the kidney and urinary tract [1]. Only two of the primary hyperoxalurias have been well characterized—type 1 (PH1, MIM 259900 [OMIM] ) and type 2 (PH2, MIM260000). PH1 is caused by a deficiency of the liver-specific peroxisomal enzyme alanine:glyoxylate aminotransferase (AGT, EC 2.6.1.44 [EC] ), and PH2 is caused by a deficiency of the cytosolic/mitochondrial enzyme glyoxylate/hydroxypyruvate reductase (GR/HPR, EC 1.1.1.26 [EC] /79) [2]. Although the mutant genes and the dysfunctional enzymes are different in PH1 and PH2, the clinical outcome is very similar (i.e. hyperoxaluria, urolithiasis and/or nephrocalcinosis) (Figure 1). Especially in the case of PH1, renal CaOx deposition is likely to lead to kidney failure, after which the combined effects of increased oxalate synthesis . . . [Full Text of this Article]



   Genotype–phenotype correlations
 


   Treating the symptoms
 


   Treating the causes
 
Pyridoxine therapy
Enzyme replacement therapy
Gene therapy
Chemical chaperones

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