目的 总结FBP1基因变异所致果糖-1，6-二磷酸酶缺乏症（FBP1D）患儿的临床特征和基因变异特点。方法 选取2019年1月至2025年6月收治的4例FBP1D患儿作为研究对象，回顾性分析其临床表现、实验室检查、基因检测结果、治疗及预后。对已报道的中国FBP1D患者资料进行文献复习与总结。结果 4例患儿来自4个不同家系，男1例，女3例，诊断年龄分别为2岁3月龄、3岁5月龄、2岁11月龄、4岁4月龄，主要临床表现为发热、呕吐、食欲欠佳时出现嗜睡、乏力、多汗及精神萎靡；实验室检查提示低血糖、代谢性酸中毒、乳酸升高及血酮体升高。所有患者均检出FBP1基因纯合或复合杂合变异，其中发现3个位点为首次报道（c.242T>C、c.469G>C、c.115C>A）。随访6个月至6年，在严格饮食管理和密切血糖监测下，所有患儿疾病均控制良好，身心发育水平均基本正常。截至2025年12月20日，国内共报道38例FBP1D患者，其中男23例、女15例，最常见表现为低血糖、代谢性酸中毒及抽搐；81.6%的患者智力与运动发育正常，无神经系统后遗症。最常见的FBP1基因变异位点为c.960dup、c.960del、c.490G>A、c.704del、c.355G>A。结论 酮症性低血糖同时伴有代谢性酸中毒和乳酸升高，需警惕FBP1D可能，建议进行基因检测。FBP1D患儿通过合理的饮食管理及血糖监测，可有效避免低血糖频繁发作；随年龄增长，低血糖发作逐渐减少，大多数患儿预后良好。

Objective To summarize the clinical features and genetic variation characteristics of children with fructose-1,6-bisphosphatase deficiency (FBP1D) caused by FBP1 gene variations. Methods Four pediatric patients with FBP1D admitted from January 2019 to June 2025 were enrolled as study subjects. Their clinical manifestations, laboratory findings, genetic testing results, treatment strategies, and prognosis were analyzed retrospectively. Additionally, a literature review was conducted to summarize data of previously reported Chinese FBP1D patients. Results The four patients were from four unrelated families, including 1 male and 3 females, with ages at diagnosis of 2 years and 3 months, 3 years and 5 months, 2 years and 11 months, and 4 years and 4 months, respectively. Core clinical presentations included fever, vomiting, anorexia, accompanied by drowsiness, fatigue, hyperhidrosis, and lethargy. Laboratory tests revealed hypoglycemia, metabolic acidosis, elevated lactate, and increased blood ketone bodies. All patients carried homozygous or compound heterozygous FBP1 gene variants, among which three novel variants were identified (c.242T>C, c.469G>C, c.115C>A). During a follow-up period of 6 months to 6 years, all patients achieved well-controlled disease under strict dietary management and close blood glucose monitoring, with essentially normal physical and mental development. As of December 20, 2025, a total of 38 FBP1D cases had been reported in China (23 males, 15 females), with the most common manifestations being hypoglycemia, metabolic acidosis, and convulsions. Approximately 81.6% of patients exhibited normal intellectual and motor development without neurological sequelae. The most frequent FBP1 gene variants were c.960dup, c.960del, c.490G>A, c.704del, and c.355G>A. Conclusion Ketotic hypoglycemia accompanied by metabolic acidosis and elevated lactate should raise suspicion of FBP1D, and genetic testing is recommended in such cases. Rational dietary management and blood glucose monitoring can effectively reduce the frequency of hypoglycemic episodes in FBP1D children. Hypoglycemic attacks tend to decrease with age, and most patients have a favorable prognosis.