Methylmalonic Aciduria, Cbla Type (MMAA)

甲基丙二酸尿症cblA型(来自ICD-11)

别称:

Methylmalonic Acidemia Cbla Type

Methylmalonic Aciduria Cbla Type

Mmaa

Methylmalonic Aciduria, Vitamin B12-Responsive, Due to Defect in Synthesis of Adenosylcobalamin, Cbla Type

Methylmalonic Aciduria, Vitamin B12-Responsive Due to a Defect in Synthesis of Adenosylcobalamin Cb1a Type

Methylmalonic Aciduria, Vitamin B12-Responsive, Cbla Type

Vitamin B12 Responsive Methylmalonic Acidemia Type Cbl a

Vitamin B12 Responsive Methylmalonic Aciduria Type Cbl a

Vitamin B12-Responsive Methylmalonic Acidemia Type Cbla

Vitamin B12-Responsive Methylmalonic Aciduria Type Cbla

Vitamin B12 Responsive Methylmalonic Acidemia, Cbl a

Aciduria, Methylmalonic, Cbla Type

Methylmalonic Aciduria Cbla Type

Methylmalonic Acidemia, Cbla Type

Methylmalonic Aciduria Type Cbla

Methylmalonic Aciduria Type a

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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，Cbla 型，也称为甲基丙二酸血症Cbla 型，与甲基丙二酰辅酶A 缺乏症和转钴胺素II 缺乏症有关，症状包括嗜睡、癫痫发作和震颤。与甲基丙二酸尿症，Cbla 型相关的基因是MMAA（与钴胺素代谢相关的A），其相关通路/超级通路包括传染病和代谢。相关组织包括骨髓和骨，相关表型包括肌张力减低和高氨血症。

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