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., ...Daha Fazla

MOLECULAR GENETICS AND METABOLISM, cilt.119, sa.4, ss.311-316, 2016 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 119 Sayı: 4
  • Basım Tarihi: 2016
  • Doi Numarası: 10.1016/j.ymgme.2016.10.011
  • Dergi Adı: MOLECULAR GENETICS AND METABOLISM
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.311-316
  • Anahtar Kelimeler: Primary hyperoxaluria type 1, Alanine glyoxylateaminotransferase (AGXT) gene mutation, I PRIMARY HYPEROXALURIA, DIAGNOSIS, PHENOTYPE, GENOTYPE
  • Akdeniz Üniversitesi Adresli: Evet

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).