Gibson K M, Elpeleg O N, Jakobs C, Costeff H, Kelley R I
Baylor Research Institute, Baylor Univ. Medical Center, Dallas, TX 75226.
Pediatr Neurol. 1993 Mar-Apr;9(2):120-3. doi: 10.1016/0887-8994(93)90046-f.
The most common clinical syndromes associated with 3-methylglutaconic aciduria are presented. In some patients these syndromes are multisystemic, progressive disorders of unknown etiology. Tissues deriving significant energy through oxidative metabolism (notably brain and cardiac muscle) are most often affected and in some the primary defect may reside within the mitochondrial respiratory chain. Although increasing biochemical evidence suggests that 3-methylglutaconic aciduria may correlate with deranged mitochondrial energy metabolism, the biochemical origin of 3-methylglutaconic acid and the significance of its increased excretion remain unknown. This review describes these syndromes and illustrates the necessity of urinary organic acid analysis to assist in the differential diagnosis.
本文介绍了与3-甲基戊二酸尿症相关的最常见临床综合征。在一些患者中，这些综合征是病因不明的多系统进行性疾病。通过氧化代谢获取大量能量的组织（尤其是脑和心肌）最常受到影响，在某些情况下，原发性缺陷可能存在于线粒体呼吸链中。尽管越来越多的生化证据表明3-甲基戊二酸尿症可能与线粒体能量代谢紊乱有关，但3-甲基戊二酸的生化起源及其排泄增加的意义仍不清楚。本综述描述了这些综合征，并说明了尿有机酸分析在辅助鉴别诊断中的必要性。
