Martínez Bermejo A, Pascual Castroviejo I, Merinero B, Campos Y, López Martín V, Arcas J, Gutiérrez Molina M, Arenas J
Servicio de Neuropediatría, Hospital La Paz, Facultad de Medicina, Universidad Autónoma, Madrid.
Neurologia. 1994 Aug-Sep;9(7):303-6.
We report two brothers with a glutaric aciduria type I (GA-I) identified by Glutaryl-coenzyme A dehydrogenase deficiency in skin fibroblasts. The onset of neurologic abnormalities was at 6 and 9 months of age as an acute Reye-like presentation in one. Because of the hyperlactacidemia, hyperlactatorrachia, mitochondrial abnormalities in muscular cells and a deficiency in complex I and IV of the respiratory chain in isolated mitochondria from muscle, a presumptive diagnosis of Leigh syndrome was made. We analyze the difference between both disorders. GA-I should be suspected in patients with acute dystonia and psychomotor regression, lactic acidosis and hypodensity of the basal ganglia.
我们报告了两名患有I型戊二酸血症（GA-I）的兄弟，他们通过皮肤成纤维细胞中的戊二酰辅酶A脱氢酶缺乏症得以确诊。其中一名患者在6个月和9个月大时出现神经系统异常，表现为类似瑞氏综合征的急性发作。由于高乳酸血症、高乳酸尿症、肌肉细胞中的线粒体异常以及从肌肉中分离出的线粒体中呼吸链复合体I和IV缺乏，初步诊断为 Leigh 综合征。我们分析了这两种疾病之间的差异。对于患有急性肌张力障碍、精神运动发育迟缓、乳酸酸中毒和基底节低密度的患者，应怀疑患有GA-I。
