Methylmalonic Aciduria, Cblb Type (MMAB)

甲基丙二酸尿症cblB 型(来自ICD-11)

别称:

Methylmalonic Aciduria Cblb Type

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

Methylmalonic Acidemia Cblb Type

Mmab

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

Methylmalonic Aciduria, Vitamin B12-Responsive, Cblb Type

Vitamin B12-Responsive Methylmalonic Aciduria, Type Cblb

Vitamin B12 Responsive Methylmalonic Acidemia Type Cbl B

Vitamin B12 Responsive Methylmalonic Aciduria Type Cbl B

Vitamin B12-Responsive Methylmalonic Acidemia Type Cblb

Aciduria, Methylmalonic, Cblb Type

Methylmalonic Acidemia, Cblb Type

Methylmalonic Aciduria Type Cblb

Methylmalonic Aciduria Type B

Methylmalonic Acidemia

Methylmalonic Aciduria

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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，Cblb 型，也称为甲基丙二酸尿症 cblb 型，与甲基丙二酰辅酶 A 缺乏引起的甲基丙二酸尿症和孤立性甲基丙二酸血症有关，症状包括嗜睡、呕吐和呼吸困难。与甲基丙二酸尿症，Cblb 型有关的重要基因是 MMAB（甲基钴胺素相关 B），其相关通路/超通路包括代谢和水溶性维生素和辅因子的代谢。在该疾病的背景下提到了甲硝唑和生物素。附属组织包括前列腺和心脏，相关表型为生长发育迟缓和肌张力低下。

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