近年研究表明同型半胱氨酸蓄积是患神经管畸形和心血管疾病的危险因素之一。甲硫氨酸合酶是同型半胱氨酸代谢的关键酶 ,其活性缺失可能会导致同型半胱氨酸蓄积及甲硫氨酸缺陷。本文综述了甲硫氨酸合酶基因突变与神经管畸形的流行病学研究结果 ,目前尚未证实甲硫氨酸合酶与同型半胱氨酸蓄积以及神经管畸形发生的关系 ,但可将还原其活性状态的蛋氨酸合酶还原酶作为进一步的研究线索 Recent studies have shown that homocysteine ​​accumulation is one of the risk factors of neural tube defects and cardiovascular diseases. Methionine synthase is a key enzyme in homocysteine ​​metabolism, and its lack of activity may lead to homocysteine ​​accumulation and methionine deficiency. This review summarizes the epidemiological results of methionine synthase gene mutation and neural tube defects. However, the relationship between methionine synthase and homocysteine ​​accumulation and neural tube defects has not yet been confirmed. However, Its active status of methionine synthase reductase as a further study clues