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中文Mitochondrial Dna Depletion Syndrome 4a (MTDPS4A)
Alias:
Alpers Syndrome
Alpers-Huttenlocher Syndrome
Alpers Progressive Infantile Poliodystrophy
Progressive Sclerosing Poliodystrophy
Alpers Disease
Alpers Diffuse Degeneration of Cerebral Gray Matter with Hepatic Cirrhosis
Diffuse Cerebral Sclerosis of Schilder
Progressive Neuronal Degeneration of Childhood with Liver Disease
Alpers Progressive Sclerosing Poliodystrophy
Mtdps4a
Pndc
Neuronal Degeneration of Childhood with Liver Disease, Progressive
Neuronal Degeneration of Childhood with Liver Disease Progressive
Mitochondrial Dna Depletion Syndrome 4a Alpers Type
Mitochondrial Dna Depletion Syndrome, Type 1
Alpers' Disease or Gray-Matter Degeneration
Alper's Syndrome
Ahs
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线粒体DNA耗竭综合症4a，也被称为阿尔珀斯综合症，与线粒体DNA耗竭综合症和POLG相关疾病有关，其症状包括共济失调、肌阵挛和呕吐。与线粒体DNA耗竭综合症4a有关的重要基因是POLG（DNA聚合酶伽马，催化亚基），其相关通路/超级通路包括tRNA氨基酰化和线粒体复合物IV组装。在该疾病的背景下，已提到的药物包括泼尼松和泼尼松酸。相关组织包括肝脏和皮质，相关表型为痉挛和共济失调。
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