Status epilepticus due to fructose-1,6-bisphosphatase deficiency caused by FBP1 gene mutation
키워드
요약
Introduction: Fructose-1,6-bisphosphatase (FBPase) deficiency is a rare inherited disorder in gluconeogenesis, characterized by hypoglycemia, ketonuria, metabolic acidosis and convulsions.
Case presentation: We describe two brothers with FBPase 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+2delinsTC 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.
Keywords: 6‐bisphosphatase deficiency; FBP1; Fructose‐1; Hypoglycemia; Mutation; Status epilepticus.
