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中文Malonyl-Coa Decarboxylase Deficiency (MLYCD DEFICIENCY)
Alias:
Malonic Aciduria
Deficiency of Malonyl-Coa Decarboxylase
Malonyl-Coenzyme a Decarboxylase Deficiency
Mlycd Deficiency
Malonic Acidemia
Mcd Deficiency
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琥珀酰辅酶A脱羧酶缺乏症，也称为琥珀酸尿症，与联合琥珀酸和甲基琥珀酸尿症和心房停搏1有关，症状包括腹痛、腹泻和癫痫发作。与琥珀酰辅酶A脱羧酶缺乏症相关的重要基因是MLYCD（琥珀酰辅酶A脱羧酶）。相关组织包括心脏和大脑，相关表型为厚脑回和智力障碍
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MALACARDS
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