ArticleMolecular syndromology2026
5-Oxoprolinase Deficiency and Epilepsy: A Report of Four Cases with New Clinical Findings and Clinical Diversity Even in the Same Family.
Article in Molecular syndromology, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
Introduction: 5-Oxoprolinuria is primarily suggestive of genetic defects in two enzymes belonging to the gamma-glutamyl cycle in the glutathione metabolism: the glutathione synthetase and the 5-oxoprolinase. 5-Oxoprolinase deficiency is a sporadic autosomal recessive disorder of the gamma-glutamyl cycle, primarily caused by pathogenic variants in the Methods: We present 4 patients who were diagnosed with 5-oxoprolinuria that had different clinical symptoms and 3 out of 4 patients were siblings. Results: In this study, 2 female and 2 male patients with 5-oxoprolinase deficiency were included. There were different clinical findings in the same family. Patients had unreported clinical symptoms such as growth retardation and drug-resistant epilepsy. Conclusion: OPLAH gene mutations have been observed to cause different clinical findings in the same family. A correlation was found between urine 5-oxoproline levels and the severity of clinical findings.
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