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
收藏
页码：122 / 126
页数：5
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