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尿素循环为机体清除氨的主要途径,共包括五个酶促反应。涉及的酶为氨甲酰合成酶(CPS)、鸟氨酸氨甲酰转移酶(OCT)、精氨酸琥珀酸合成酶(ASA)、精氨酸琥珀酸裂解酶(AL)和精氨酸酶(ARG),其中任何一种酶缺陷均可导致尿素循环障碍,而以OCT缺陷最为多见;其临床特征为高氨血症并发乳清酸尿症。患者摄食高蛋白质食物可诱发症状,本病为伴性显性遗传方式。作者曾对8例OCT缺陷患者进行酶活性测定及酶蛋白量测定,发现
Urea cycle is the main way for the body to remove ammonia, including a total of five enzymatic reactions. The enzymes involved are carbamoyl synthase (CPS), ornithine carbamoyltransferase (OCT), arginine succinate synthase (ASA), arginine succinate lyase (AL) and arginine Enzymes (ARGs), any of which can lead to defects in the enzyme cycle of urea disorders, and the most common OCT defects; its clinical features of hypernatremia complicated by whey aciduria. Patients with high protein foods can induce symptoms, the disease is associated with dominant dominant heredity. The authors have 8 patients with OCT defects in enzyme activity determination and enzyme protein determination and found