Article
Primary hyperoxaluria Type 1: indications for screening and guidance for diagnosis and treatment.
Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association - 1 May 2012
Cochat Pierre, Hulton Sally-Anne, Acquaviva Cécile, Danpure Christopher J, Daudon Michel, De Marchi Mario, Fargue Sonia, Groothoff Jaap, Harambat Jérôme, Hoppe Bernd, Jamieson Neville V, Kemper Markus J, Mandrile Giorgia, Marangella Martino, Picca Stefano, Rumsby Gill, Salido Eduardo, Straub Michael, van Woerden Christiaan S
Abstract excerpt
Primary hyperoxaluria Type 1 is a rare autosomal recessive inborn error of glyoxylate metabolism, caused by a deficiency of the liver-specific enzyme alanine:glyoxylate aminotransferase. The disorder results in overproduction and excessive urinary excretion of oxalate, causing recurrent urolithiasis and nephrocalcinosis. As glomerular filtration rate declines due to progressive renal involvement, oxalate...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.