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甲基丙二酸血症是由于甲基丙二酰辅酶A变位酶或其辅酶腺苷钴胺素缺陷所致的一种遗传性代谢疾病。患者体内甲基丙二酸及其他代谢产物蓄积,造成脑组织损伤,可表现为各种不同程度的智力发育迟缓及严重的神经功能障碍。甲基丙二酸血症的脑损伤机制至今尚不完全明确,目前研究主要集中在:线粒体功能障碍、神经元细胞凋亡、细胞骨架磷酸化改变及髓鞘形成障碍等脑神经结构损伤;神经节苷脂和突触可塑性异常等脑神经发育损伤;以及认知和行为改变等脑功能损伤。
Methyl malonylmia is a hereditary metabolic disease caused by defects in methylmalonyl-CoA mutase or its coenzyme Adenosine cobalamin. Patients with methylmalonic acid and other metabolites accumulation, resulting in brain tissue damage, can show various degrees of mental retardation and severe neurological dysfunction. The mechanism of brain damage induced by methylmalonic acid is still not completely clear up till now. At present, the research mainly focuses on the damage of brain structure such as mitochondrial dysfunction, neuronal apoptosis, phosphorylation of cytoskeleton and dysmyelination. Gangliosides and synaptic plastic abnormalities such as cerebral nerve damage; and cognitive and behavioral changes such as brain damage.