5-Oxoprolinase Deficiency (OPLAHD)

5-Oxoprolinase Deficiency, also known as oxoprolinuria due to oxoprolinase deficiency, is related to glutathione synthetase deficiency and nephrolithiasis, calcium oxalate, 1, and has symptoms including abdominal pain, diarrhea and vomiting. An important gene associated with 5-Oxoprolinase Deficiency is OPLAH (5-Oxoprolinase, ATP-Hydrolysing). Affiliated tissues include kidney, and related phenotypes are vomiting and abdominal pain