Methylmalonic Aciduria and Homocystinuria, Cbld Type (MAHCD)

甲基丙二酸尿症合并高胱氨酸尿症cblD型(来自ICD-11)

别称:

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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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，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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