Casella E B, Martins F R, Miura I K, Vieira M A, Porta G
Instituto da Criança do Hospital das Clínicas da Faculdade de Medicina, Universidade de São Paulo (FMUSP), Brasil. erasmobc-icr.hcnet.usp.br
Arq Neuropsiquiatr. 1998 Sep;56(3A):472-5. doi: 10.1590/s0004-282x1998000300019.
We report a patient that presented two episodes of coma in the neonatal period, with severe metabolic acidosis and hypoglycemia, without ketosis. The urinary organic acid analysis showed increased amounts of 3-hydroxy-3-methyl-glutaric, 3-methylglutaconic, 3-methylglutaric and 3-hydroxyisovaleric acid. The deficiency of 3-hydroxy-3-methylglutaryl-CoA lyase was diagnosed by the clinical and metabolic features. This disease shows autosomal recessive inheritance and the treatment is done by a diet with restriction of protein (mainly leucine) and lipids, high in carbohydrate content, and the avoidance of fasting and carnitine supplementation.
我们报告了一名在新生儿期出现两次昏迷发作的患者，伴有严重代谢性酸中毒和低血糖，无酮血症。尿有机酸分析显示3-羟基-3-甲基戊二酸、3-甲基戊烯二酸、3-甲基戊二酸和3-羟基异戊酸含量增加。根据临床和代谢特征诊断为3-羟基-3-甲基戊二酰辅酶A裂解酶缺乏症。这种疾病呈常染色体隐性遗传，治疗方法是采用限制蛋白质（主要是亮氨酸）和脂质、高碳水化合物含量的饮食，并避免禁食和补充肉碱。
