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DMGDH

Gene name:dimethylglycine dehydrogenase

...DMGDH蛋白主要表达于肝脏和肾脏,其活性依赖于FAD辅因子和电子传递系统。该基因突变会导致二甲基甘氨酸脱氢酶缺乏症,表现为二甲基甘氨酸和肌氨酸在尿液中异常积累,可能引起代谢性酸中毒、发育迟缓和肌无力等症状。DMGDH属于脱氢酶/氧化还原酶...

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