遗传代谢病致儿童癫痫的相关研究进展

遗传代谢病是因维持机体正常代谢所必须的某些酶、受体、载体及膜泵等生物合成发生遗传缺陷而导致的疾病,多为单基因隐性遗传病。遗传代谢病包括氨基酸、有机酸、糖、脂肪、激素等数百种先天性代谢缺陷,是导致神经系统损害的重要原因,通常包括多种神经系统症状,如癫痫。各类疾病起病年龄有所不同,临床表现复杂,同种疾病可有不同的临床表现。无论癫痫是否发生以及何时发生,及时的诊断和治疗都能有效改善这些遗传代谢病的预后。

Study on Epilepsy Caused by Inherited Metabolic Diseases

Inherited metabolic diseases were caused by the biosynthesis disorders in some enzyme, receptors, carrier and membrane pump of the human body, which were mainly single gene recessive genetic diseases. Such diseases include hundreds of inborn metabolic defects, such as amino acids, organic acids, sugar, fat, hormone, etc. Those metabolic defects are the main causes of a damaged nervous system, which usually includes a variety of nervous system symptoms, such as epilepsy. All kinds of diseases have different onset ages and complex clinical manifestations, while the same disease may have different clinical manifestations. However, no matter whether the epilepsy occurs or whenever it happens, timely diagnosis and treatment can effectively improve the prognosis of these genetic metabolic diseases.