Genetic diagnosis and mutation site analysis of fructose 1, 6 diphosphatase deficiency
10.3969/j.issn.1000-3606.2017.12.001
- VernacularTitle:果糖1,6二磷酸酶缺乏症的遗传学诊断及突变位点分析
- Author:
Yinxia ZHAO
1
;
Juan LIANG
;
Jing LIU
;
Biao LU
;
Xinyou YU
Author Information
1. 宁夏医科大学总医院儿科 宁夏银川 750004
- Keywords:
fructose 1;
6 diphosphatase deficiency;
FBP1 gene;
hypoglycemia;
acidosis
- From:
Journal of Clinical Pediatrics
2017;35(12):881-884
- CountryChina
- Language:Chinese
-
Abstract:
Objectives To explore the genetic diagnosis of fructose 1,6 diphosphatase deficiency and analysis of mutation sites of its pathogenic genes. Methods The clinical data and the related results of gene panel screening in one child with fructose 1, 6 diphosphatase (FBPase) deficiency were retrospectively reviewed. Results The 2-year-old girl suffered repeated infection, nausea, vomiting, mental illness, and drowsiness, accompanied by intermittent convulsions. Blood biochemical tests sμggested hypoglycemia and acidosis.The FBP1 gene had a missense mutation,c.355G>A,p.Asp119Asn(isozygoty).Both her parents carried the locus variation (heterozygous). Conclusions Fructose 1, 6 diphosphatase deficiency should be considered when child with hypoglycemia after repeated infection, acidosis, and ketosis.
