Mutation analysis of an adult patient with fructose-1,6-bisphosphatase deficiency in a Chinese family

VernacularTitle:一例成人果糖-1,6-二磷酸酶缺乏症家系突变基因分析
Author: Jingru LU ¹ ; Yanhua LANG ; Cui WANG ; Ting LIU ; Ruixiao ZHANG ; Yue HAN ; Leping SHAO
Author Information

1. 266003,青岛大学医学院附属医院中心实验室和肾内科
Keywords: Fructose-1; 6-bisphosphatase deficiency; Lactic acidosis; Fructose-1; 6-bisphosphatase 1 gene
From: Chinese Journal of Endocrinology and Metabolism 2017;33(9):752-754
CountryChina
Language:Chinese
Abstract: The gene mutations of a patient with fructose-1,6-bisphosphatase (FBPase) deficiency and her parents were analyzed and her clinical manifestations, laboratory tests, and genetic characteristics were reviewed. The molecular analysis of FBP1 gene showed a G residue duplication at base 960 in exon 7(c. 960dupG) in this patient while her parents carried the heterozygous c. 960dupG mutation. The prominent clinical feature of this patient was the benign course of the disease with age. However, acute attack could be triggered by stress, long-time fasting, a large amounts of fructose intake, etc. The typical clinical manifestations were severe lactic acidosis, hypoglycemia, and elevated liver enzymes.