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

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...

Descripción completa

Detalles Bibliográficos
Autores principales: Mei, Shiyue, Ma, Chao, Cheng, Yibing, Qian, Suyun, Jin, Zhipeng
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2019
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7331360/
https://www.ncbi.nlm.nih.gov/pubmed/32851303
http://dx.doi.org/10.1002/ped4.12135
Descripción
Sumario: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.

Ejemplares similares