Abstract: Objective：To report a case of fructose-1,6-bisphosphatase deficiency diagnosed by genetic sequencing, and to improve the cognition of this rare disease and etiological diagnosis of status epilepticus (SE). Methods：Clinical data of the patient with FBP1 gene mutation from Children's Hospital of Fudan University were collected. The related literature was searched from Wanfang Data Service Platform, China National Knowledge Infrastructure and PubMed (up to October 2017) by using search terms "FBP1" and "Fructose-1,6-bisphosphatase deficiency". Results：A male patient with fructose bisphosphatase-1(FBP1) gene mutations who presented with SE and was misdiagnosed and treated with levetiracetam was reported. Genetic analysis of the family members revealed that the proband had compound heterozygous mutations of c.704delC and c.959dupG, which were inherited from his carrier parents, respectively. After genetic diagnosis, the patient was instructed to avoid prolonged fasting and to have fructose-free foods and finally withdrew from antiepileptic drugs. No seizures occurred during two years of follow-up. Sequencing of the amniotic fluid cells of the second child showed that the fetus only carried one heterozygous mutation which was inherited from the mother. According to the literature, 68.5% of cases had an onset in newborns or infancy, and the main causes were infection and inadequate intake. Main clinical manifestations were disturbance of consciousness, convulsions, gastrointestinal symptoms with hypoglycemia and lactic acidosis. Conclusion：For children manifested as recurrent SE with hypoglycemia, metabolic disorders should be considered. Correct diagnosis in early episodes is very important to improve the prognosis. Genetic counseling may be helpful to the family.