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

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 hypogl...

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Bibliographic Details
Main Authors: Shiyue Mei, Chao Ma, Yibing Cheng, Suyun Qian, Zhipeng Jin
Format: Article
Language:English
Published: Wiley 2019-06-01
Series:Pediatric Investigation
Subjects:
6‐bisphosphatase deficiency
FBP1
Fructose‐1
Hypoglycemia
Mutation
Status epilepticus
Online Access:https://doi.org/10.1002/ped4.12135

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