Open AccessStatus epilepticus due to fructose‐1,6‐bisphosphatase deficiency caused by FBP 1 gene mutation
Author(s) -
Mei Shiyue,
Ma Chao,
Cheng Yibing,
Qian Suyun,
Jin Zhipeng
Publication year - 2019
Publication title -
pediatric investigation
Language(s) - English
Resource type - Journals
ISSN - 2574-2272
DOI - 10.1002/ped4.12135
Subject(s) - hypoglycemia , status epilepticus , proband , ketonuria , medicine , fructose , endocrinology , mutation , gene , biology , genetics , epilepsy , biochemistry , diabetes mellitus , psychiatry
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.