Molecular analysis of the AGXT gene in patients suspected with hyperoxaluria type 1 and three novel mutations from Turkey

Isiyel E., Ezgu S. A. B., Caliskan S., AKMAN S., Akil I., TABEL Y., ...More

MOLECULAR GENETICS AND METABOLISM, vol.119, no.4, pp.311-316, 2016 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 119 Issue: 4
  • Publication Date: 2016
  • Doi Number: 10.1016/j.ymgme.2016.10.011
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.311-316
  • Istanbul University Affiliated: Yes


Primary hyperoxaluria type 1 (PH1) is a rare, autosomal recessive disease, caused by the defect of AGXT gene encoding hepatic peroxisomal alanine glyoxylateaminotransferase (AGT). This enzyme is responsible for the conversion of glyoxylate to glycine. The diagnosis of PH1 should be suspected in infants and children with nephrocalcinosis or nephrolithiasis. Early diagnosis and treatment is crucial in preventing disease progression to end stage kidney disease (ESKD).