• Inherited deficiency of pyruvate kinase, a key glycolytic enzyme, causes ATP deficiency, which leads to reduced RBC life span and hemolytic anemia.

    酵解关键——丙酮激酶,如果它有遗传缺陷,就导致会atp缺乏红细胞寿命缩短溶血性贫血

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  • Methylmalonic acidemia is an inherited metabolic disorder, which is caused by deficiency of methylmalonyl-coenzyme a mutase or its cofactor adenosylcobalamin.

    甲基丙二酸血症由于甲基丙二酰辅酶A变位酶辅酶腺苷钴胺素缺陷所致遗传性代谢疾病

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  • Gaucher disease is an inherited disorder that is caused by a deficiency in an enzyme called glucocerebrosidase.

    戈谢病遗传性疾病,是缺乏一种名为葡萄糖脑苷脂的酶引起的。

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  • An inherited metabolic disorder characterized by the deficiency of an enzyme that is necessary for the metabolism of galactose.

    乳糖一种遗传代谢紊乱,因缺乏对半乳糖新陈代谢必需的引起。

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  • An inherited metabolic disorder characterized by the deficiency of an enzyme that is necessary for the metabolism of galactose.

    乳糖一种遗传代谢紊乱,因缺乏对半乳糖新陈代谢必需的引起。

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