Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type (HMAG)

高胱氨酸尿症-巨幼细胞性贫血cblG补体型(来自ICD-11)

别称:

Methylcobalamin Deficiency, Cblg Type

Methylcobalamin Deficiency Type Cblg

Hmag

Homocystinuria-Megaloblastic Anemia Due to Defect in Cobalamin Metabolism, Cblg Complementation Type

Homocystinuria-Megaloblastic Anemia Due to Defect in Cobalamin Metabolism Cblg Complementation Type

Functional Methionine Synthase Deficiency Type Cblg

Homocystinuria-Megaloblastic Anemia Cblg Type

Methionine Synthase Deficiency

Methylcobalamin Deficiency Cbl G Type

Methylcobalamin Deficiency Cblg Type

Arakawa Syndrome 2

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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

同型半胱氨酸尿症-巨幼红细胞性贫血，Cblg互补型，也称为甲钴胺缺乏症，Cblg型，与无甲基丙二酸尿症的同型半胱氨酸尿症和同型半胱氨酸尿症-巨幼红细胞性贫血，Cble互补型有关，症状包括癫痫发作。与同型半胱氨酸尿症-巨幼红细胞性贫血，Cblg互补型有关的重要基因是MTR（5-甲基四氢叶酸-同型半胱氨酸甲基转移酶）。附属组织包括乳腺，相关表型为眼震和失明。

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