Article
A novel variant in the FBP1 gene causes fructose-1,6-bisphosphatase deficiency through increased ubiquitination.
Archives of biochemistry and biophysics - 1 Jul 2023
Liang Xiaoyan, Liu Xiaoliang, Li Wenjing, Zhang Lu, Zhang Bijun, Lai Guangrui, Zhao Yanyan
Abstract excerpt
Fructose-1,6-bisphosphatase (FBPase) deficiency is an autosomal recessive disorder characterized by impaired gluconeogenesis caused by mutations in the fructose-1,6-bisphosphatase 1 (FBP1) gene. The molecular mechanisms underlying FBPase deficiency caused by FBP1 mutations require investigation. Herein, we report the case of a Chinese boy with FBPase deficiency who presented with hypoglycemia, ketonuria,...
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