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., ...Daha Fazla

MOLECULAR GENETICS AND METABOLISM, cilt.119, ss.311-316, 2016 (SCI İndekslerine Giren Dergi) identifier identifier identifier

  • Cilt numarası: 119 Konu: 4
  • Basım Tarihi: 2016
  • Doi Numarası: 10.1016/j.ymgme.2016.10.011
  • Dergi Adı: MOLECULAR GENETICS AND METABOLISM
  • Sayfa Sayıları: ss.311-316

Özet

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).