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中文Methemoglobinemia Due to Deficiency of Methemoglobin Reductase (METHB-CYB5R3)
Alias:
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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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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Basic Information
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MALACARDS
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MGI
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