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Fructose‐1,6‐bisphosphatase ( FBP ase) deficiency is a rare inherited disorder in gluconeogenesis, characterized by hypoglycemia, ketonuria, metabolic acidosis and convulsions.    Case presentation  We describe two brothers with  FBP ase deficiency. The proband developed s evere hypoglycemia and progressed to status epilepticus, and the brother showed slightly hypoglycemia with a good prognosis. Whole exome sequencing ( WES ) identified compound heterozygous variants [c.333+1_333+2delins TC  and c.490G>A (p.Gly164Ser)] in fructose‐1,6‐bisphosphatase 1 gene in the two brothers, which were inherited from the father and the mother, respectively.    Conclusion  Genetic analysis provided a solid basis for a definite diagnosis and the determination of precision therapies for the patient.

Status epilepticus due to fructose‐1,6‐bisphosphatase deficiency caused by FBP 1 gene mutation