由于基因突变或维生素/叶酸缺乏、高热量饮食、肾损伤等因素引起的多组织(肝脏、肾脏等)同型半胱氨酸(homocysteine,Hcy)代谢紊乱,可诱发血浆同型半胱氨酸水平的升高,造成高同型半胱氨酸血症。而高同型半胱氨酸血症与多种疾病的发生发展密切相关,但具体机制复杂且需深入研究。本文旨在综述同型半胱氨酸代谢和相关疾病的最新研究进展与机制,以及目前高同型半胱氨酸血症治疗现状,从而为高同型半胱氨酸血症及相关疾病的治疗提供可能的干预策略。

Genetic mutation, vitamin and folate deficiencies, diet high-calorie and renal impairment could induce homocysteine (Hcy) -associated metabolic disorders in multiple tissues (liver, kidney, etc.) and lead to increased plasma Hcy levels, finally resulting in hyperhomocysteinemia (HHcy). HHcy is closely related to the occurrence and development of various diseases. However, the underlying mechanisms are complex and poorly understood. This article reviews the relationship between Hcy metabolism and related diseases, discusses the latest advances in the mechanism underlying the disorders of Hcy metabolism, as well as the current state of disease treatment, further providing possible intervention strategies for the treatment of HHcy -associated diseases.