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

被引：3

作者：

Mei, Shiyue ^{[1
]}

Ma, Chao ^{[2
]}

Cheng, Yibing ^{[2
]}

Qian, Suyun ^{[3
]}

Jin, Zhipeng ^{[2
]}

机构：

[1] Zhengzhou Univ, Zhengzhou Childrens Hosp, Childrens Hosp, Dept Intens Care Unit,Henan Prov Key Lab Children, Zhengzhou, Henan, Peoples R China

[2] Zhengzhou Univ, Zhengzhou Childrens Hosp, Childrens Hosp, Dept Intens Care Unit, Zhengzhou, Henan, Peoples R China

[3] Capital Med Univ, Beijing Childrens Hosp, Natl Ctr Childrens Hlth, Dept Pediat Crit Care Med, Beijing, Peoples R China

来源：

PEDIATRIC INVESTIGATION | 2019年 / 3卷 / 02期

基金：

中国国家自然科学基金;

关键词：

6-bisphosphatase deficiency; FBP1; Fructose-1; Hypoglycemia; Mutation; Status epilepticus; HYPOGLYCEMIA; ACIDOSIS; ENZYME;

D O I：

10.1002/ped4.12135

中图分类号：

R72 [儿科学];

学科分类号：

100202 ;

摘要：

IntroductionFructose-1,6-bisphosphatase (FBPase) deficiency is a rare inherited disorder in gluconeogenesis, characterized by hypoglycemia, ketonuria, metabolic acidosis and convulsions. Case presentationWe 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. ConclusionGenetic analysis provided a solid basis for a definite diagnosis and the determination of precision therapies for the patient.

引用

页码：122 / 126

页数：5

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