5-Oxoprolinase deficiency

Definition:

5-Oxoprolinase deficiency is an extremely rare disorder of the gamma-glutamyl cycle, that represents the primary pathway for glutathione synthesis and degradation. Recently, the OPLAH mutation was reported in two siblings who suffered from 5-oxoprolinuria with a benign clinical course.

References:

[1]. Eduardo Calpena, et al. 5-Oxoprolinuria in Heterozygous Patients for 5-Oxoprolinase (OPLAH) Missense Changes. JIMD Rep. 2013;7:123-8. [Content Brief]

[2]. I A Almaghlouth, et al. 5-Oxoprolinase deficiency: report of the first human OPLAH mutation. Clin Genet. 2012 Aug;82(2):193-6. [Content Brief]

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