Methylmalonic Aciduria and Homocystinuria, Cblc Type (MAHCC)

甲基丙二酸尿症合并同型半胱氨酸尿症cblC型(来自ICD-11)

别称:

Mahcc

Vitamin B12 Metabolic Defect with Combined Deficiency of Methylmalonyl-Coa Mutase and Homocysteine:methyltetrahydrofolate Methyltransferase

Methylmalonic Aciduria and Homocystinuria, Cblc Type, Digenic

Methylmalonic Aciduria and Homocystinuria Type Cblc

Methylmalonic Acidemia with Homocystinuria Cblc

Cobalamin C Disease

Combined Defect in Adenosylcobalamin and Methylcobalamin Synthesis, Type Cblc

Methylmalonic Aciduria and Homocystinuria, Vitamin B12-Responsive

Methylmalonic Aciduria and Homocystinuria Vitamin B12-Responsive

Aciduria, Methylmalonic, and Homocystinuria, Cblc Type

Methylmalonic Acidemia with Homocystinuria, Type Cblc

Methylmalonic Aciduria with Homocystinuria, Type Cblc

Methylmalonic Acidemia and Homocystinuria, Cblc Type

Methylmalonic Acidemia and Homocystinuria Cblc Type

Methylmalonic Acidemia with Homocystinuria

Cobalamin C Deficiency

Cobalamin C Defect

Cblc Defect

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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

甲基丙二酸血症和高半胱氨酸血症，Cblc型，也称为mahcc，与甲基丙二酸血症和高半胱氨酸血症，Cblf型和甲基丙二酸血症和高半胱氨酸血症，cbld型有关，症状包括嗜睡和癫痫发作。与甲基丙二酸血症和高半胱氨酸血症，Cblc型有关的重要基因是MMACHC（与钴胺素代谢相关的C），其相关通路/超通路包括传染病和代谢。在该疾病的背景下，已提到的药物有氢氧化钴胺和氰钴胺。相关组织包括眼睛和脊髓，相关表型为智力障碍和甲基丙二酸血症。

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