Illsinger Sabine, Lücke Thomas, Zschocke Johannes, Gibson Kenneth M, Das Anibh M
Department of Paediatrics, Medical School Hanover, Hanover, Germany.
Pediatr Neurol. 2004 Mar;30(3):213-5. doi: 10.1016/j.pediatrneurol.2003.09.016.
3-Methylglutaconic-aciduria type I (MGA1, OMIM 250950) resulting from 3-Methylglutaconyl-coenzyme A hydratase deficiency is a rare inherited metabolic disorder of l-leucine catabolism. We diagnosed this condition in a 4-year-old German male with generalized fever-associated seizures from the age of 12 months and normal psychomotor development. First he was considered to suffer from uncomplicated febrile seizures. After his eighth seizure, laboratory investigations were performed to exclude inborn errors of metabolism. Analysis of organic acids in urine indicated highly elevated concentrations of 3-methylglutaconic and 3-hydroxyisovaleric acids. 3-Methylglutaconyl-coenzyme A hydratase activity was markedly decreased in skin fibroblasts. Mutation analysis in the AUH gene revealed homozygosity for a novel splice site mutation IVS9-2A>G. We conclude that MGA1 may be associated with fever-associated seizures even in children without delayed psychomotor development.
I型3-甲基戊二酸尿症（MGA1，OMIM 250950）是由3-甲基戊二酰辅酶A水合酶缺乏引起的，是一种罕见的遗传性亮氨酸分解代谢障碍疾病。我们诊断出一名4岁德国男性患有此病，该患儿自12个月大起就出现与发热相关的全身性癫痫发作，且精神运动发育正常。起初，他被认为患有单纯性热性惊厥。在他第八次发作后，进行了实验室检查以排除先天性代谢缺陷。尿液有机酸分析表明，3-甲基戊二酸和3-羟基异戊酸的浓度大幅升高。皮肤成纤维细胞中的3-甲基戊二酰辅酶A水合酶活性显著降低。对AUH基因的突变分析显示，存在一种新的剪接位点突变IVS9-2A>G的纯合性。我们得出结论，即使在精神运动发育未延迟的儿童中，MGA1也可能与发热相关的癫痫发作有关。
