Ontology highlight
ABSTRACT:
SUBMITTER: Harambat J
PROVIDER: S-EPMC3124893 | biostudies-literature | 2011
REPOSITORIES: biostudies-literature
Harambat Jérôme J Fargue Sonia S Bacchetta Justine J Acquaviva Cécile C Cochat Pierre P
International journal of nephrology 20110616
Primary hyperoxalurias (PH) are inborn errors in the metabolism of glyoxylate and oxalate. PH type 1, the most common form, is an autosomal recessive disorder caused by a deficiency of the liver-specific enzyme alanine, glyoxylate aminotransferase (AGT) resulting in overproduction and excessive urinary excretion of oxalate. Recurrent urolithiasis and nephrocalcinosis are the hallmarks of the disease. As glomerular filtration rate decreases due to progressive renal damage, oxalate accumulates lea ...[more]