Rebouche C J, Engel A G
Clin Chim Acta. 1980 Oct 9;106(3):295-300. doi: 10.1016/0009-8981(80)90313-7.
The syndrome of systemic carnitine deficiency (progressive muscle weakness, recurrent metabolic encephalopathy, low liver and muscle and fluctuating serum carnitine levels) has been attributed to a defect of carnitine biosynthesis. We determined activities in liver of the four enzymes which convert epsilon-N-trimethyl-L-lysine to L-carnitine in three patients with systemic carnitine deficiency and in 12 control subjects. In the three patients all enzyme activities were within the nornal range except one, which was slightly below the normal range. We conclude that in systemic carnitine deficiency no enzymatic defect exists in the conversion of epsilon-N-trimethyl-L-lysine to carnitine.
全身性肉碱缺乏综合征（进行性肌无力、反复代谢性脑病、肝脏和肌肉中肉碱水平低以及血清肉碱水平波动）被认为是肉碱生物合成缺陷所致。我们测定了3例全身性肉碱缺乏患者和12名对照者肝脏中4种将ε-N-三甲基-L-赖氨酸转化为L-肉碱的酶的活性。在这3例患者中，除一种酶的活性略低于正常范围外，其他所有酶的活性均在正常范围内。我们得出结论，在全身性肉碱缺乏症中，ε-N-三甲基-L-赖氨酸转化为肉碱不存在酶缺陷。
