Methemoglobinemia Due to Deficiency of Methemoglobin Reductase (METHB-CYB5R3)

高铁血红蛋白还原酶缺乏所致的高铁血红蛋白血症(来自ICD-11)

别称:

Methemoglobinemia, Type I

Nadh-Cytochrome B5 Reductase Deficiency

Deficiency of Cytochrome-B5 Reductase

Nadh-Dependent Methemoglobin Reductase Deficiency

Methemoglobinemia Type 2

Congenital Methemoglobinemia Due to Nadh-Cytochrome B5 Reductase 3 Deficiency

Chronic Familial Methemoglobin Reductase Deficiency

Methemoglobinemia, Congenital, Autosomal Recessive

Congenital Nadh-Methemoglobin Reductase Deficiency

Autosomal Recessive Congenital Methemoglobinemia

Methemoglobinemia Congenital Autosomal Recessive

Nadh-Cytochrome B5 Reductase Deficiency Type Ii

Nadh-Cytochrome B5 Reductase Deficiency Type I

Nadh Cytochrome B5 Reductase Deficiency

Cytochrome B5 Reductase Deficiency

Methemoglobinemia Cyb5r3-Related

Methemoglobinemia, Type Ii

Methemoglobinemia Type Ii

Methemoglobinemia Type I

Diaphorase Deficiency

Nadh-Cyb5r Deficiency

Methemoglobinemia

Methb-Cyb5r3

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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

血红蛋白病由于缺乏血红蛋白还原酶，也称为血红蛋白病，类型I，与血红蛋白病和性腺发育不全以及丙酮酸脱氢酶E3结合蛋白缺乏有关，症状包括共济失调、发绀和头痛。与血红蛋白病由于缺乏血红蛋白还原酶有关的重要基因是CYB5R3（细胞色素B5还原酶3）。在该疾病的背景下，已提到的药物有亚甲蓝和酶抑制剂。附属组织包括皮肤和大脑，相关表型为智力障碍和全球发育延迟。

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