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中文Methylmalonic Aciduria and Homocystinuria, Cbld Type (MAHCD)
Alias:
Methylmalonic Aciduria and Homocystinuria Type Cbld
Homocystinuria, Cbld Type, Variant 1
Vitamin B12-Responsive Methylmalonic Acidemia, Type Cbldv2
Mahcd
Combined Defect in Adenosylcobalamin and Methylcobalamin Synthesis, Type Cbld
Vitamin B12-Responsive Methylmalonic Aciduria, Type Cbldv2
Methylmalonic Aciduria and Homocystinuria Cbld-Combined
Methylmalonic Aciduria and Homocystinuria Cbld Original
Aciduria, Methylmalonic, and Homocystinuria, Cbld Type
Functional Methionine Synthase Deficiency Type Cbldv1
Methylmalonic Acidemia with Homocystinuria, Type Cbld
Methylmalonic Aciduria with Homocystinuria, Type Cbld
Methylmalonic Acidemia and Homocystinuria, Cbld Type
Methylmalonic Acidemia and Homocystinuria Cbld Type
Methylmalonicacidemia with Homocystinuria, Cbl D
Methylmalonic Aciduria, Cbld Type, Variant 2
Methylmalonic Aciduria, Cblh Type, Formerly
Methylmalonic Acidemia, Cblh Type, Formerly
Methylcobalamin Deficiency Type Cbldv1
Methylmalonic Aciduria Cbld Variant 2
Homocystinuria Cbld Variant 1
Cobalamin D Deficiency
Cobalamin D Defect
Cbld Defect
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甲基丙二酸血症和高半胱氨酸血症，Cbld型，也称为甲基丙二酸血症和高半胱氨酸血症Cbld型，与甲基丙二酸血症和高半胱氨酸血症Cblf型以及细胞内钴胺素代谢紊乱有关。与甲基丙二酸血症和高半胱氨酸血症，Cbld型相关的基因是MMADHC（与钴胺素代谢相关的D代谢），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，相关表型为智力障碍和癫痫。
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MALACARDS
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