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中文Methylmalonyl-Coa Epimerase Deficiency (MCEED)
Alias:
Methylmalonic Acidemia Due to Methylmalonyl-Coa Epimerase Deficiency
Methylmalonyl-Coa Racemase Deficiency
Methylmalonic Aciduria Due to Methylmalonyl-Coa Epimerase Deficiency
Methylmalonic Acidemia Due to Methylmalonyl-Coa Racemase Deficiency
Methylmalonic Aciduria Due to Methylmalonyl-Coa Racemase Deficiency
Methylmalonic Aciduria Iii, Formerly
Methylmalonic Aciduria Type 3
Methylmalonic Aciduria Iii
Mcee Deficiency
Mceed
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甲基肉碱-辅酶A转位酶缺陷，也称为甲基肉碱血症，由于甲基肉碱-辅酶A转位酶缺陷引起，与肌张力障碍、多巴反应性、由于色胺酸还原酶缺乏和丙酸血症有关。与甲基肉碱-辅酶A转位酶缺陷相关的基因是MCEE（甲基肉碱-辅酶A转位酶）。相关表型为肌张力障碍和发育迟缓
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MALACARDS
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