肌酸缺乏症的诊断与治疗进展

康路路; 吴静; 杨艳玲

doi:10.16689/j.cnki.cn11-9349/r.2026.03.006

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肿瘤代谢与营养电子杂志 ›› 2026, Vol. 13 ›› Issue (3) : 365-369. DOI: 10.16689/j.cnki.cn11-9349/r.2026.03.006

专家论坛

肌酸缺乏症的诊断与治疗进展

¹康路路, ¹吴静, ²杨艳玲

作者信息 +

Advancements in the diagnosis and treatment of creatine deficiency syndrome

¹Kang Lulu, ¹Wu Jing, ²Yang Yanling

Author information +

文章历史 +

摘要

肌酸缺乏症是一组罕见病, 由于肌酸转运体、胍基乙酸甲基转移酶或精氨酸-甘氨酸脒基转移酶缺陷导致脑肌酸缺乏、能量生成障碍、神经信号传导功能下降,引起智力损害、癫痫、行为异常等神经精神疾病。随着分子遗传学与代谢组学技术的进步,肌酸缺乏症的遗传机制、生化特点得以阐明,但临床表型缺乏特异性,治疗手段有限,患者诊断与治疗困难。本文详细阐述肌酸缺乏症的发病机制、病因、临床表现、生化代谢、诊断与治疗进展,为临床实践提供理论依据,旨在促进肌酸缺乏症的精准防控。

Abstract

Creatine deficiency syndromes are a group of rare diseases caused by defects in creatine transporters, guanidinoacetate methyltransferase, or arginine-glycine amidinotransferase. These defects lead to brain creatine deficiency, impaired energy production, and reduced neural signal transmission function, resulting in neurological and psychiatric disorders such as intellectual disability, epilepsy, and behavioral abnormalities. With advances in molecular genetics and metabolomics, the genetic mechanisms and biochemical characteristics of creatine deficiency syndromes have been clarified. However, the clinical phenotypes are non-specific, and available therapies are limited. The diagnosis and management are difficult. This paper provides a detailed review of the pathogenesis, classification, clinical manifestations, laboratory investigations, and advances in diagnosis and treatment of creatine deficiency syndromes, aiming to provide a theoretical basis for clinical practice and to promote precise prevention and treatment.

导出引用

康路路, 吴静, 杨艳玲. 肌酸缺乏症的诊断与治疗进展[J]. 肿瘤代谢与营养电子杂志. 2026, 13(3): 365-369 https://doi.org/10.16689/j.cnki.cn11-9349/r.2026.03.006

Kang Lulu, Wu Jing, Yang Yanling. Advancements in the diagnosis and treatment of creatine deficiency syndrome[J]. Electronic Journal of Metabolism and Nutrition of Cancer. 2026, 13(3): 365-369 https://doi.org/10.16689/j.cnki.cn11-9349/r.2026.03.006

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