Baker N S, Sarnat H B, Jack R M, Patterson K, Shaw D W, Herndon S P
Department of Neurology, University of Washington School of Medicine, Seattle, USA.
J Child Neurol. 1997 Jan;12(1):31-6. doi: 10.1177/088307389701200105.
An infant girl was demonstrated to have D-2-hydroxyglutaric aciduria, the fifth case described and the first with muscle biopsy of this rare organic aciduria that differs clinically and genetically from the more common L-2-hydroxyglutaric aciduria. Her clinical features included mildly dysmorphic facies, developmental delay, generalized hypotonia, myoclonic seizures, cortical blindness, and dilated cardiomyopathy requiring treatment. Muscle biopsy demonstrated only excessive glycogen histochemically, but ultrastructural examination revealed subsarcolemmal cylindrical spirals and normal mitochondria. Because of the metabolism of D-2-hydroxyglutaric aciduria, we regard valproic acid as contraindicated in the treatment of epilepsy in this disease.
一名女婴被诊断为患有D-2-羟基戊二酸尿症，这是所描述的第五例病例，也是首例对这种罕见有机酸尿症进行肌肉活检的病例，该病症在临床和基因方面与更常见的L-2-羟基戊二酸尿症不同。她的临床特征包括轻度面部畸形、发育迟缓、全身肌张力减退、肌阵挛性癫痫发作、皮质盲以及需要治疗的扩张型心肌病。肌肉活检在组织化学上仅显示糖原过多，但超微结构检查发现肌膜下圆柱形螺旋结构以及正常的线粒体。由于D-2-羟基戊二酸尿症的代谢情况，我们认为丙戊酸在该疾病的癫痫治疗中为禁忌药物。
