A case of fructose-1, 6-bisphosphatase deficiency with delayed diagnosis for 7 years and review of literature
10.3760/cma.j.cn311282-20200302-00122
- VernacularTitle:一例延迟诊断7年的果糖-1，6二磷酸酶缺乏症报道及文献复习
- Author:
Mengjie YANG
;
Yili LU
;
Huiping WU
;
Xiaoou SHAN
- From:
Chinese Journal of Endocrinology and Metabolism
2021;37(5):457-461
- CountryChina
- Language:Chinese
-
Abstract:
To report a case of fructose-1, 6-bisphosphatase deficiency child with delayed diagnosis for seven years, and review the literature. A 13-year-old boy presented with recurrent episodes of hypoglycemia after infection since 6 years old, he also had convulsion and short stature. The laboratory finding revealed ketotic hypoglycemia, lactic acidosis, transient elevated ALT and UA. The genetic analysis showed compound heterozygous mutations of c. 960-961insG and c. 355G> A in FBP1 gene. Among eighteen patients reported in China, 88.9% had convulsion, 16.7% had growth retardation, the average delayed diagnosis spent 2.8 years, which could result in permanent brain damage and high death risk. The most common mutation was c. 960-961insG, followed by c. 355G>A and c. 490G>A, these mutations maybe hot spot sites of FBPl gene in China.
