Status epilepticus due to fructose‐1,6‐bisphosphatase deficiency caused by FBP1 gene mutation

Pediatric Investigation

Zhipeng Jin¹  Chao Ma¹  Yibing Cheng¹  Shiyue Mei²  Suyun Qian³ 

[1] Department of Intensive Care Unit Children's Hospital Affiliated to Zhengzhou University Zhengzhou Children's Hospital Zhengzhou Henan China;Department 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;Department of Pediatric Critical Care Medicine Beijing Children's Hospital Capital Medical University National Center for Children's Health Beijing China;

关键词: 6‐bisphosphatase deficiency;    FBP1;    Fructose‐1;    Hypoglycemia;    Mutation;    Status epilepticus;   

DOI  :  10.1002/ped4.12135

来源: DOAJ

【 摘 要 】

Abstract 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.

【 授权许可】

Unknown