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中文Methylmalonic Aciduria and Homocystinuria, Cblc Type (MAHCC)
Alias:
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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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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MALACARDS
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