Ontology highlight
ABSTRACT:
SUBMITTER: Li GM
PROVIDER: S-EPMC4080780 | biostudies-literature | 2014
REPOSITORIES: biostudies-literature
Li Guo-min GM Xu Hong H Shen Qian Q Gong Yi-nv YN Fang Xiao-yan XY Sun Li L Liu Hai-mei HM An Yu Y
BMC nephrology 20140617
<h4>Background</h4>Primary hyperoxaluria type 1 is a rare autosomal recessive disease of glyoxylate metabolism caused by a defect in the liver-specific peroxisomal enzyme alanine:glyoxylate aminotransferase (AGT) that leads to hyperoxaluria, recurrent urolithiasis, and nephrocalcinosis.<h4>Methods</h4>Two unrelated patients with recurrent urolithiasis, along with members of their families, exhibited mutations in the AGXT gene by PCR direct sequencing.<h4>Results</h4>Two heterozygous mutations th ...[more]