3-Methylglutaconic Aciduria with Deafness, Encephalopathy, and Leigh-Like Syndrome (MEGDEL)

伴耳聋、脑病及Leigh样综合征3-甲基戊烯二酸尿症(来自ICD-11)

别称:

Megdel Syndrome

Megdel

Mgca6

3-Methylglutaconic Aciduria with Dystonia-Deafness, Hepatopathy, Encephalopathy, and Leigh-Like Syndrome

3-Methylglutaconic Aciduria with Hearing Loss-Encephalopathy-Leigh-Like Syndrome

3-Methylglutaconic Aciduria with Deafness-Encephalopathy-Leigh-Like Syndrome

3-Methylglutaconic Aciduria, Type Vi

Megdhel

3-Methylglutaconic Aciduria Type Iv with Sensorineural Deafness, Encephalopathy, and Leigh-Like Syndrome

3-Methylglutaconic Aciduria Type Iv with Sensorineural Deafness, Encephalopathy and Leigh-Like Syndrome

3-Methylglutaconic Aciduria with Deafness, Encephalopathy, Leigh-Like Syndrome

3-Methylglutaconic Aciduria Type 6

Megdhel Syndrome

Serac1 Defect

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基础信息

疾病表征

基因 & 突变

靶点药物

疾病模型

文献报道

3-甲基戊二酸尿症伴耳聋、脑病和莱利-莱克综合征，也称为megdel综合征，与莫尔-特兰内贝贾尔格综合征和3-甲基戊二酸尿症I型有关，其症状包括肌肉痉挛和外锥体运动功能异常。与3-甲基戊二酸尿症伴耳聋、脑病和莱利-莱克综合征有关的重要基因是SERAC1（含丝氨酸活性位点1），其相关通路/超通路包括代谢和过氧化物酶体脂质代谢。相关组织包括肝脏和大脑，相关表型包括癫痫和小头畸形。

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