Dataset Information

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

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.

SUBMITTER: Mei S

PROVIDER: S-EPMC7331360 | biostudies-literature | 2019 Jun

REPOSITORIES: biostudies-literature

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Publications

Status epilepticus due to fructose-1,6-bisphosphatase deficiency caused by <i>FBP1</i> gene mutation.

Mei Shiyue S Ma Chao C Cheng Yibing Y Qian Suyun S Jin Zhipeng Z

Pediatric investigation 20190625 2

<h4>Introduction</h4>Fructose-1,6-bisphosphatase (FBPase) deficiency is a rare inherited disorder in gluconeogenesis, characterized by hypoglycemia, ketonuria, metabolic acidosis and convulsions.<h4>Case presentation</h4>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_3 ...[more]

PMID: 32851303

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