Roe C R, Millington D S, Maltby D A
J Clin Invest. 1986 Apr;77(4):1391-4. doi: 10.1172/JCI112446.
Deficiency of 3-hydroxy-3-methylglutaryl-coenzyme A (CoA) lyase affects the metabolism of leucine as well as ketogenesis. This disorder is one of an increasing list of inborn errors of metabolism that presents clinically like Reye's Syndrome or nonketotic hypoglycemia. Four patients with proven 3-hydroxy-3-methylglutaryl-CoA lyase deficiency were shown to excrete a new diagnostically specific metabolite. The technique of fast atom bombardment and tandem mass spectrometry revealed that only 3-methylglutaryl-CoA is a substrate for acylcarnitine formation. Neither 3-methylglutaconyl-CoA nor 3-hydroxy-3-methylglutaryl-CoA are excreted as acylcarnitines. The excretion of 3-methylglutarylcarnitine may explain, in part, the apparent secondary carnitine deficiency in this disorder. Carnitine supplementation with moderate dietary restrictions may be a useful treatment strategy for this disorder.
3-羟基-3-甲基戊二酰辅酶A（CoA）裂解酶缺乏会影响亮氨酸代谢以及酮体生成。这种病症是越来越多的先天性代谢缺陷之一，临床上表现类似瑞氏综合征或非酮症性低血糖症。已证实4例3-羟基-3-甲基戊二酰辅酶A裂解酶缺乏患者排泄出一种新的具有诊断特异性的代谢产物。快原子轰击和串联质谱技术显示，只有3-甲基戊二酰辅酶A是酰基肉碱形成的底物。3-甲基戊烯二酰辅酶A和3-羟基-3-甲基戊二酰辅酶A均不会以酰基肉碱形式排泄。3-甲基戊二酰肉碱的排泄可能部分解释了该病症中明显的继发性肉碱缺乏。补充肉碱并适度限制饮食可能是治疗该病症的有效策略。
