MUSCLE CARNITINE PALMITYLTRANSFERASE DEFICIENCY AND MYOGLOBINURIA
MUSCLE CARNITINE PALMITYLTRANSFERASE DEFICIENCY AND MYOGLOBINURIA
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DOI：
10.1126/science.182.4115.929
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发表时间：
1973-01-01
期刊：
影响因子：
56.9
通讯作者：
DIMAURO, PMM
中科院分区：
文献类型：
--
作者：
DIMAURO, S;DIMAURO, PMM
肌肉肉毒碱棕榈酰转移酶活性，测量三种不同的方法，是非常低的（0至20%的控制）在一个家族综合征的复发性肌红蛋白尿症的患者。长链脂肪酰辅酶A合成酶活性正常;乙酰肉毒碱转移酶活性下降了40%，肉毒碱含量是平均对照值的1.7倍。利用棕榈酸分离的线粒体受损比利用棕榈酰肉碱，这表明一个更严重的缺陷肉碱棕榈酰转移酶I比转移酶II。因此，肌红蛋白尿可能是由于骨骼肌脂质代谢的遗传缺陷。
Muscle carnitine palmityltransferase activity, measured by three different methods, was very low (0 to 20 percent of controls) in a patient with a familial syndrome of recurrent myoglobinuria. Long-chain fatty acyl CoA synthetase activity was normal; acetylcarnitine transferase activity was decreased by 40 percent, and carnitine content was 1.7 times higher than the mean control value. Utilization of palmitate by isolated mitochondria was more impaired than utilization of palmitylcarnitine, suggesting a more severe defect of carnitine palmityltransferase I than transferase II. Thus, myoglobinuria may be due to a genetic defect of lipid metabolism in skeletal muscle.