Mitochondrial Complex I Deficiency, Nuclear Type 1 (MC1DN1)

线粒体复合物I缺乏核基因型1型(来自ICD-11)

别称:

Mitochondrial Complex I Deficiency

Nadh:q(1) Oxidoreductase Deficiency

Nadh-Coenzyme Q Reductase Deficiency

Mc1dn1

Nuclear Type Mitochondrial Complex I Deficiency 1

Mitochondrial Nadh Dehydrogenase Component of Complex I, Deficiency of

Deficiency of Mitochondrial Nadh Dehydrogenase Component of Complex I

Isolated Mitochondrial Respiratory Chain Complex I Deficiency

Complex I, Mitochondrial Respiratory Chain, Deficiency of

Complex I Mitochondrial Respiratory Chain Deficiency

Isolated Nadh-Coenzyme Q Reductase Deficiency

Isolated Nadh-Ubiquinone Reductase Deficiency

Mitochondrial Complex I Deficiency, Nuclear

Nadh:ubiquinone Oxidoreductase Deficiency

Isolated Nadh-Coq Reductase Deficiency

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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

线粒体复合体I缺陷，核型1，也称为线粒体复合体I缺陷，核型10和线粒体复合体I缺陷，核型28，其症状包括共济失调、嗜睡和肌肉痉挛。与线粒体复合体I缺陷，核型1相关的基因是NDUFS4（NADH：泛醌氧化还原酶亚基S4），其相关通路/超级通路包括代谢和呼吸电子传递、化学耦合ATP合成和热能产生通过解耦联蛋白。药物Pharmaceutical Solutions已在该疾病的背景下被提及。相关组织包括肝脏和大脑，相关表型为生长发育迟缓和肌张力低下。

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