Unravelling 5-oxoprolinuria (pyroglutamic aciduria) due to bi-allelic OPLAH mutations: 20 new mutations in 14 families

Sass J. O. , GEMPERLE-BRITSCHGI C., Tarailo-Graovac M., PATEL N., WALTER M., JORDANOVA A., ...Daha Fazla

MOLECULAR GENETICS AND METABOLISM, cilt.119, ss.44-49, 2016 (SCI İndekslerine Giren Dergi) identifier identifier identifier

  • Cilt numarası: 119
  • Basım Tarihi: 2016
  • Doi Numarası: 10.1016/j.ymgme.2016.07.008
  • Sayfa Sayıları: ss.44-49


Primary 5-oxoprolinuria (pyroglutamic aciduria) is caused by a genetic defect in the gamma-glutamyl cycle, affecting either glutathione synthetase or 5-oxoprolinase. While several dozens of patients with glutathione synthetase deficiency have been reported, with hemolytic anemia representing the clinical key feature, 5-oxoprolinase deficiency due to OPLAH mutations is less frequent and so far has not attracted much attention. This has prompted us to investigate the clinical phenotype as well as the underlying genotype in patients from 14 families of various ethnic backgrounds who underwent diagnostic mutation analysis following the detection of 5-oxoprolinuria.