目的探讨甲基丙二酸血症(MMA)的临床特征和治疗方法。
Objective Methylmalonic acidemia (MMA) is one of the most common disorders of congenital organic acid metabolism.
甲基丙二酸血症是由于甲基丙二酰辅酶A变位酶或其辅酶腺苷钴胺素缺陷所致的一种遗传性代谢疾病。
Methylmalonic acidemia is an inherited metabolic disorder, which is caused by deficiency of methylmalonyl-coenzyme a mutase or its cofactor adenosylcobalamin.
甲基丙二酸血症是由于甲基丙二酰辅酶A变位酶或其辅酶腺苷钴胺素缺陷所致的一种遗传性代谢疾病。
Methylmalonic acidemia is an inherited metabolic disorder, which is caused by deficiency of methylmalonyl-coenzyme a mutase or its cofactor adenosylcobalamin.
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