Methylmalonic Aciduria Due to Methylmalonyl-Coa Mutase Deficiency (MMAM)

甲基丙二酰辅酶A变位酶缺乏引起的甲基丙二酸尿症(来自ICD-11)

别称:

Methylmalonic Aciduria, Mut(0) Type

Methylmalonic Acidemia Due to Methylmalonyl-Coa Mutase Deficiency

Methylmalonic Aciduria, Mut Type

Aciduria, Methylmalonic, Due to Methylmalonyl-Coa Mutase Deficiency

Methylmalonicaciduria Due to Methylmalonyl-Coa Mutase Deficiency

Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0

Vitamin B12-Unresponsive Methylmalonic Aciduria Type Mut0

Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-

Vitamin B12-Unresponsive Methylmalonic Aciduria Type Mut-

Vitamin B12-Unresponsive Methylmalonic Aciduria

Complete Deficiency of Methylmalonyl-Coa Mutase

Partial Deficiency of Methylmalonyl-Coa Mutase

Methylmalonicaciduria Vitamin B12 Unresponsive

Methylmalonyl-Coenzyme a Mutase Deficiency

Methylmalonic Aciduria Mut Type

Methylmalonic Aciduria Type Mut

Mma Due to Mcm Deficiency

Mmam

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基础信息

疾病表征

基因 & 突变

靶点药物

疾病模型

文献报道

甲基丙二酸尿症，由于甲基丙二酰辅酶A突变酶缺乏，也称为甲基丙二酸尿症，突变(0)型，与同型半胱氨酸尿症和甲基丙二酸血症有关。与甲基丙二酸尿症，由于甲基丙二酰辅酶A突变酶缺乏相关的基因是MMUT(甲基丙二酰辅酶A突变酶)，其相关通路/超级通路包括代谢和水溶性维生素和辅因子的代谢。附属组织包括苍白球和肾脏，相关表型为生长发育迟缓和恶心呕吐

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