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


Isiyel E. , BAKKALOĞLU EZGÜ S. A. , ÇALIŞKAN S., AKMAN S., AKİL İ., TABEL Y., ...More

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

  • Publication Type: Article / Article
  • Volume: 119 Issue: 4
  • Publication Date: 2016
  • Doi Number: 10.1016/j.ymgme.2016.10.011
  • Title of Journal : MOLECULAR GENETICS AND METABOLISM
  • Page Numbers: pp.311-316

Abstract

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).