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单词 Methylmalonic aciduria
释义

Methylmalonic aciduria

英语百科

Methylmalonic acidemia

(重定向自Methylmalonic aciduria)
Methylmalonic acidemia has an autosomal recessive pattern of inheritance.
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.

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更新时间:2025/6/22 10:14:25