Article
Identification of genotype-biochemical phenotype correlations associated with fructose 1,6-bisphosphatase deficiency.
Communications biology - 28 Jul 2023
Sakuma Ikki, Nagano Hidekazu, Hashimoto Naoko, Fujimoto Masanori, Nakayama Akitoshi, Fuchigami Takahiro, Taki Yuki, Matsuda Tatsuma, Akamine Hiroyuki, Kono Satomi, Kono Takashi, Yokoyama Masataka, Nishimura Motoi, Yokote Koutaro, Ogasawara Tatsuki, Fujii Yoichi, Ogawa Seishi, Lee Eunyoung, Miki Takashi, Tanaka Tomoaki
Abstract excerpt
Fructose-1,6-bisphosphatase (FBPase) deficiency, caused by an FBP1 mutation, is an autosomal recessive disorder characterized by hypoglycemic lactic acidosis. Due to the rarity of FBPase deficiency, the mechanism by which the mutations cause enzyme activity loss still remains unclear. Here we identify compound heterozygous missense mutations of FBP1, c.491G>A (p.G164D) and c.581T>C (p.F194S), in an adult patient...
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