Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
5513986 | Molecular Genetics and Metabolism | 2016 | 6 Pages |
Abstract
Clinical features were highly variable and in several sib pairs, did not segregate with 5-oxoprolinuria. Although a pathogenic role of 5-oxoprolinase deficiency remains possible, this is not supported by our findings. Additional patient ascertainment and long-term follow-up is needed to establish the benign nature of this inborn error of metabolism. It is important that all symptomatic patients with persistently elevated levels of 5-oxoproline and no obvious explanation are investigated for the genetic etiology.
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Authors
Jörn Oliver Sass, Corinne Gemperle-Britschgi, Maja Tarailo-Graovac, Nisha Patel, Melanie Walter, Albena Jordanova, Majid Alfadhel, Ivo BariÄ, Mahmut Ãoker, Aynur Damli-Huber, Eissa Ali Faqeih, Nuria GarcÃa Segarra, Michael T. Geraghty,