hrp0089p2-p194 | Fetal, Neonatal Endocrinology and Metabolism P2 | ESPE2018

Molecular Defects Identified by Whole Exome Sequencing in a Chinese Boy with Fructose-1,6-Bisphosphatase Deficiency

Huang Zhuo , Wu Jin , Xiang Chengfa

Backgroud: Fructose-1,6-bisphosphatase (FBPase) deficiency is a rare autosomal recessive inherited disorder of gluconeogenesis, which caused by the mutations in the FBP1 gene. FBPase deficiency is characterized by recurrent episodes of hypoglycemia with metabolic and lactic acidosis. If diagnosed early, the prognosis of this disorder is excellent by the prevention of hypoglycemia and avoidance of intake of fructose and sucrose. However, the misdiagnosis of FBPase defi...

hrp0097fc5.4 | Diabetes and insulin 1 | ESPE2023

Changes of intestinal flora in children with type 1 diabetes mellitus and its related immune mechanism

Liu Ying , Li Liman , Wu Jin , Li Hong

Key words: Type 1 diabetes mellitus; Intestinal flora; metagenomic sequencing; cytokines; AutoimmunityObjective: This study aims to verify the effect of intestinal microbiota diversity on the disease development of T1DM mice model, and to explore the mechanism of intestinal microbiota in the development of type 1 diabetes mediated by related cytokines.Method: T1DM mouse model was e...