Unravelling 5-oxoprolinuria (pyroglutamic aciduria) due to bi-allelic OPLAH mutations: 20 new mutations in 14 families
Makaleler > Tam Makale · 2016
Yazarlar: Joern Oliver Sass, Corinne GEMPERLE-BRITSCHGI, Maja Tarailo-Graovac, Nisha PATEL, Melanie WALTER, Albena JORDANOVA, Majid ALFADHEL, Ivo BARIC, Mahmut ÇOKER, Aynur DAMLI-HUBER, Eissa Ali FAQEIH, Nuria Garcia Segarra, Michael T. Geraghty, Bjorn Magne JATUN, Sema KALKAN UÇAR, Merten KRIEWITZ, Markus RAUCHENZAUNER, Karmen BILIC, Ivailo TOURNEV, Claudia Till, Bryan SAYSON, Daniel BEUMER, Cynthia Xin YE, Lin-Hua ZHANG, Hilary VALLANCE, Fowzan S. ALKURAYA, Clara D. M. VAN KARNEBEEK
Molecular Genetics and Metabolism, SCI Expanded İndekslerine Giren Dergi, Uluslararası, Wos, 2016, cilt 119, ss 44-49
DOI: 10.1016/j.ymgme.2016.07.008
Özet
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.