Matsuda I, Ohtani Y, Ohyanagi K, Yamamoto S
Department of Pediatrics, Kumamoto University Medical School, Japan.
Enzyme. 1987;38(1-4):251-5. doi: 10.1159/000469212.
Carnitine status was evaluated in 8 patients with partial ornithine transcarbamylase (OTC) deficiency and 19 patients with secondary carnitine deficiency, who were used as positive references. Laboratory findings indicated that all patients with OTC deficiency had secondary carnitine deficiency especially in hyperammonemic attack. After L-carnitine administration in 2 patients with OTC deficiency, the number of attacks was significantly reduced in both cases.
对8例部分鸟氨酸转氨甲酰酶（OTC）缺乏患者和19例继发性肉碱缺乏患者的肉碱状态进行了评估，后者用作阳性对照。实验室检查结果表明，所有OTC缺乏患者均有继发性肉碱缺乏，尤其是在高氨血症发作时。2例OTC缺乏患者给予L-肉碱治疗后，两例患者的发作次数均显著减少。
