Association Analysis of Genotype and Phenotype in Fructose-1,6-Bisphosphatase Deficiency:A Case Report and Literature Review
WANG Hua
XUE Feng
XIONG Fu
NIE Xiao-cheng
LUO Ze-min
ZHU Shu-yao
ZENG Lan
PI Guang-huan
Abstract：Fructose-1,6-bisphosphatase deficiency(FBP1D),a rare inherited metabolic disorder,may lead to severe neurological sequelae if not treated promptly and effectively.We report a case of FBP1D diagnosed through trio-whole exome sequencing(trio-WES).The NM_000507.4(FBP1)c.977T＞C variant in this patient has not been reported in China.We summarized and analyzed the genotypic and phenotypic characteristics of 31 Chinese FBP1D patients from literature.The typical clinical manifestations included hypoglycemia,metabolic acidosis,gastrointestinal symptoms,and impaired consciousness,with the infection being the most common triggering factor.Genetic analysis revealed that the c.960dup variant in the FBP1 gene is the most prevalent variant among Chinese patients.Enhancing clinicians' awareness of FBP1D can facilitate early diagnosis and active intervention,thereby significantly improve patient prognosis.
Keywords：Fructose-16-diphosphatase deficiencyHypoglycemiaAcidosisWhole exome sequencingFBP1 gene
Publication Date：2025-09-15
Online Publishing Date：2025-10-30(First online date of this platform, not the publication date of the document)
Pages：6( 377-382 )