Vol. 39 (8) 2018 Neuro endocrinology letters

Fructose-1,6-bisphosphatase deficiency presented with complex febrile convulsion.

: Fructose-1,6-bisphosphatase (FBPase) deficiency is a rare inborn error of metabolism affecting gluconeogenesis caused by FBP1 gene mutations. It could be more fatal to infants and children when glycogen reserves are insufficient. A 4-year-old girl was admitted with complex febrile convulsion. Initial laboratory results showe.....