FMR1 gene premutation carriers are at risk of developing Fragile X-associated tremor/ataxia syndrome (FXTAS) and Fragile X-associated primary ovarian insufficiency (FXPOI) in adulthood. Currently the development of biomarkers and effective treatments in FMR1 premutations is still in its infancy. Recent metabolic studies have shown novel findings in asymptomatic FMR1 premutation carriers and FXTAS, which provide promising insight through identification of potential biomarkers and therapeutic pathways. Here we review the latest advancements of the metabolic alterations found in asymptomatic FMR1 premutation carriers and FXTAS, along with our perspective for future studies in this emerging field.

FMR1基因突变的携带者有成年后患上易碎X相关震颤/共济失调综合征（FXTAS）和易碎X相关原发性卵巢功能不全（FXPOI）的风险。目前，生物标志物的开发和有效治疗FMR1变异仍然处于起步阶段。最近的代谢研究显示了无症状的新发现FMR1突变载体和FXTAS，它们通过鉴定潜在的生物标记物和治疗途径提供了有希望的见识。在这里，我们回顾了无症状代谢改变的最新进展FMR1 突变载体和FXTAS，以及我们对这一新兴领域未来研究的看法。