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Status epilepticus due to fructose-1,6-bisphosphatase deficiency caused by FBP1 gene mutation
Shiyue Mei1, Chao Ma2, Yibing Cheng2
1Department of Intensive Care Unit Henan provincial key laboratory of children's genetics and metabolic diseases Children's Hospital Affiliated to Zhengzhou University Zhengzhou Children's Hospital Zhengzhou Henan China.
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.
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