Methylmalonic acidemia

Methylmalonic acidemia is caused by a defect in the vitamin B12-dependent enzyme methylmalonyl CoA mutase.

Methylmalonic acidemia (MMA), also called methylmalonic aciduria, first characterized by Oberholzer et al. in 1967, is an autosomal recessive metabolic disorder. It is a classical type of organic acidemia. The result of this condition is the inability to properly digest specific fats and proteins, which in turn leads to a buildup of a toxic level of methylmalonic acid in the blood.

单词	Methylmalonic acidemia
释义	Methylmalonic acidemia 英语例句库 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。英语百科 Methylmalonic acidemia Methylmalonic acidemia (MMA), also called methylmalonic aciduria, first characterized by Oberholzer et al. in 1967, is an autosomal recessive metabolic disorder. It is a classical type of organic acidemia. The result of this condition is the inability to properly digest specific fats and proteins, which in turn leads to a buildup of a toxic level of methylmalonic acid in the blood.
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