叶酸代谢缺陷是指一系列与叶酸代谢相关的遗传突变或生理异常。这些缺陷可能导致叶酸在体内的吸收、转化和利用出现问题。例如，MTHFR（甲基四氢叶酸还原酶）基因突变可以导致该酶的活性降低，从而影响叶酸代谢。在一项研究中，MTHFR基因多态性与神经管缺陷、先天性心脏病等问题有关。
备孕和妊娠期间，叶酸是一种非常重要的营养素，对胎儿发育和神经系统的形成具有关作用。因此，进行叶酸代谢能力检测可以帮助识别那些存在叶酸代谢缺陷的人群，并及时采取措施进行干预，以保障备孕妊娠期妇女及其胎儿的健康。同时应积极采取科学的营养干预措施，确保足够的叶酸和其他必要营养素的摄入。
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