Zafeiriou Dimitrios I, Vargiami Euthymia, Mayapetek Ertan, Augoustidou-Savvopoulou Persephone, Mitchell Grant A
1st Department of Pediatrics, Aristotle University, Thessaloniki, Greece.
Pediatr Neurol. 2007 Jul;37(1):47-50. doi: 10.1016/j.pediatrneurol.2007.02.007.
We report the case of an 8-month-old infant with 3-hydroxy-3-methylglutaryl coenzyme A deficiency (OMIM 246450), an inborn error of leucine catabolism and ketogenesis, who presented with nonketotic hypoglycemia and seizures. He demonstrated reversible white matter changes on serial brain magnetic resonance imaging, together with clinical normalization, after initiation of a leucine-restricted diet.
我们报告了一例8个月大的婴儿，患有3-羟基-3-甲基戊二酰辅酶A缺乏症（OMIM 246450），这是一种亮氨酸分解代谢和生酮的先天性代谢缺陷，该婴儿出现了非酮症性低血糖和癫痫发作。在开始限制亮氨酸饮食后，他在系列脑磁共振成像上显示出可逆的白质变化，同时临床症状也恢复正常。
