Article
Unravelling 5-oxoprolinuria (pyroglutamic aciduria) due to bi-allelic OPLAH mutations: 20 new mutations in 14 families.
Molecular genetics and metabolism - 1 Sept 2016
Sass Jörn Oliver, Gemperle-Britschgi Corinne, Tarailo-Graovac Maja, Patel Nisha, Walter Melanie, Jordanova Albena, Alfadhel Majid, Barić Ivo, Çoker Mahmut, Damli-Huber Aynur, Faqeih Eissa Ali, García Segarra Nuria, Geraghty Michael T, Jåtun Bjørn Magne, Kalkan Uçar Sema, Kriewitz Merten, Rauchenzauner Markus, Bilić Karmen, Tournev Ivailo, Till Claudia, Sayson Bryan, Beumer Daniel, Ye Cynthia Xin, Zhang Lin-Hua, Vallance Hilary, Alkuraya Fowzan S, van Karnebeek Clara D M
Abstract excerpt
Primary 5-oxoprolinuria (pyroglutamic aciduria) is caused by a genetic defect in the γ-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...
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