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From the genetics angle, there are some pediatric, congenital causes of 5-oxoprolinuria which not surprisingly involved defects in enzymes of the gamma-glutamyl cycle (in particular, mutations in glutathione synthetase and 5-oxoprolinase have been identified in these patients).

PCR reactions were performed with HiScript II One Step qRT-PCR SYBR Green Kit (Vazyme) on a Gentier 96R Real-Time PCR System (TIANLONG, Xian, China)

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