Methylmalonic Aciduria and Homocystinuria, Cblf Type (MAHCF)

甲基丙二酸尿症合并高胱氨酸尿症cblF型(来自ICD-11)

别称:

Methylmalonic Aciduria and Homocystinuria Type Cblf

Mahcf

Methylmalonic Aciduria Due to Vitamin B12-Release Defect

Vitamin B12 Lysosomal Release Defect

Cobalamin F Disease

Cblf

Combined Defect in Adenosylcobalamin and Methylcobalamin Synthesis, Type Cblf

Aciduria, Methylmalonic, and Homocystinuria, Cblf Type

Methylmalonic Aciduria with Homocystinuria, Type Cblf

Methylmalonic Acidemia and Homocystinuria, Cblf Type

Methylmalonic Acidemia with Homocystinuria Type Cblf

Lysosomal Membrane Cobalamin Transporter Deficiency

Methylmalonic Acidemia and Homocystinuria Cblf Type

Methylmalonicaciduria with Homocystinuria, Cbl F

Cobalamin, Defect in Lysosomal Release of

Methylcobalamin Deficiency Tape F

Vitamin B12 Storage Disease

Vitamin B12 Storage Defect

Cobalamin F Deficiency

Cobalamin F Defect

Cblf 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

甲硫氨酸血症和高半胱氨酸血症，Cblf型，也称为甲硫氨酸血症和高半胱氨酸血症Cblf型，与甲硫氨酸血症和高半胱氨酸血症Cbld型和甲硫氨酸血症和高半胱氨酸血症Cblc型有关，症状包括皮疹和嗜睡。与甲硫氨酸血症和高半胱氨酸血症，Cblf型相关的基因是LMBRD1（LMBR1域包含1），其相关通路/超级通路包括代谢和水溶性维生素和辅因子的代谢。附属组织包括皮肤和骨髓，相关表型为甲硫氨酸血症和巨幼细胞性贫血。

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