Mitochondrial Dna Depletion Syndrome 5 (MTDPS5)

线粒体DNA耗竭综合征5型（伴或不伴甲基丙二酸尿症的脑肌病）(来自ICD-11)

别称:

Succinate-Coa Ligase Deficiency

Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form with Methylmalonic Aciduria

Mtdps5

Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form, with or Without Methylmalonic Aciduria, Autosomal Recessive, Sucla2-Related

Mitochondrial Dna Depletion Syndrome Encephalomyopathic Form with or Without Methylmalonic Aciduria Autosomal Recessive Sucla2-Related

Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form, with Methylmalonic Aciduria, Autosomal Recessive

Mitochondrial Dna Depletion Syndrome 5 Encephalomyopathic with or Without Methylmalonic Aciduria

Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form, with Mild Methylmalonic Aciduria

Encephalomyopathic Mitochondrial Dna Depletion Syndrome with or Without Methylmalonic Aciduria

Mitochondrial Dna Depletion, Encephalomyopathic Form, with Methylmalonic Aciduria

Mtdna Depletion Syndrome, Encephalomyopathic Form with Methylmalonic Aciduria

Mitochondrial Encephalomyopathy-Aminoacidopathy Syndrome

Mitochondrial Dna Depletion Syndrome, Type 5

Succinate-Coenzyme a Ligase Deficiency

Booth-Haworth-Dilling Syndrome

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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DNA耗竭综合症5，也称为琥珀酸辅酶A联结酶缺陷，与线粒体DNA耗竭综合症9和甲基丙二酸血症有关，症状包括舞蹈病、肌肉痉挛和眼肌麻痹。与线粒体DNA耗竭综合症5有关的重要基因是SUCLA2（琥珀酸辅酶A联结酶ADP形成亚基β），其相关通路/超级通路包括糖酵解（BioCyc）和丙酮酸代谢。相关组织包括大脑和骨骼肌，相关表型为癫痫和上睑下垂。

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