Gibson K M, Breuer J, Nyhan W L
Department of Pediatrics, University of California, San Diego, La Jolla 92093.
Eur J Pediatr. 1988 Dec;148(3):180-6. doi: 10.1007/BF00441397.
3-Hydroxy-3-methylglutaryl-coenzyme A lyase deficiency (HMG-CoA lyase) is an inborn error of leucine catabolism which often leads to life-threatening illness in the neonatal period. The cardinal clinical features include severe infantile hypoglycemia, metabolic acidosis, hepatomegaly, lethargy or coma and apnea. Hyperammonemia is variable. There is a characteristic absence of ketosis. Considerable heterogeneity has been observed in clinical and biochemical presentation. Acute episodes of illness have been mistaken for Reye syndrome. The pattern of organic acids in the urine includes large amounts of 3-hydroxy-3-methylglutaric, 3-methyl-glutaconic, 3-methylglutaric and 3-hydroxyisovaleric acids. Smaller, but appreciable levels of glutaric, adipic and other dicarboxylic acids may also be excreted in the urine. Lactic acid may be present in sizable amounts at times of acute illness. The primary defect is a deficiency of 3-hydroxy-3-methylglutaryl-coenzyme A lyase, a key enzyme in the cycle of ketogenesis.
3-羟基-3-甲基戊二酰辅酶A裂解酶缺乏症（HMG-CoA裂解酶缺乏症）是一种亮氨酸分解代谢的先天性疾病，常在新生儿期导致危及生命的疾病。主要临床特征包括严重的婴儿低血糖、代谢性酸中毒、肝肿大、嗜睡或昏迷以及呼吸暂停。高氨血症情况不一。其特征是无酮血症。在临床和生化表现方面已观察到相当大的异质性。疾病的急性发作曾被误诊为瑞氏综合征。尿液中的有机酸模式包括大量的3-羟基-3-甲基戊二酸、3-甲基戊烯二酸、3-甲基戊二酸和3-羟基异戊酸。尿液中也可能排出少量但可检测到的戊二酸、己二酸和其他二羧酸。急性疾病发作时乳酸可能大量存在。主要缺陷是3-羟基-3-甲基戊二酰辅酶A裂解酶缺乏，这是生酮循环中的一种关键酶。
