In vitro analysis of hepatic carnitine biosynthesis in human systemic carnitine deficiency.
In vitro analysis of hepatic carnitine biosynthesis in human systemic carnitine deficiency.
复制标题
人体全身性肉碱缺乏症中肝脏肉碱生物合成的体外分析。
DOI：
10.1016/0009-8981(80)90313-7
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发表时间：
1980
期刊：
影响因子：
--
通讯作者：
Engel,AG
中科院分区：
文献类型：
--
作者：
Rebouche,CJ;Engel,AG
全身性肉碱缺乏综合征（进行性肌肉无力、复发性代谢性脑病、肝脏和肌肉水平低下以及血清肉碱水平波动）归因于肉碱生物合成缺陷。我们测定了三名全身性肉碱缺乏症患者和 12 名对照受试者肝脏中将 ε-N-三甲基-L-赖氨酸转化为左旋肉碱的四种酶的活性。在三名患者中，除一名略低于正常范围外，所有酶活性均在正常范围内。我们的结论是，在全身性肉碱缺乏症中，ε-N-三甲基-L-赖氨酸转化为肉碱时不存在酶促缺陷。
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 ϵ-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 normal 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 ϵ-N-trimethyl-l-lysine to carnitine.