Akademik Veri Yönetim Sistemi
Molecular Syndromology, 2025 (SCI-Expanded, Scopus)
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 OPLAH gene. Low levels of 5-oxoproline can normally be detected in urine, although high levels are a clue for diagnosing 5-oxoprolinase deficiency. The clinical picture is not well defined due to the limited number of cases. Some authors questioned whether it is a real inherited metabolic disorder or only a nonspecific biochemical finding. Nephrolithiasis, enterocolitis, PMR, and microcytic anemia are the well-known clinical symptoms and signs of 5-oxoprolinuria (pyroglutamic aciduria). 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.