Article
Two newly identified genomic mutations in a Japanese female patient with fructose-1,6-bisphosphatase (FBPase) deficiency.
Molecular genetics and metabolism - 1 Jul 2002
Matsuura Toshinobu, Chinen Yasutsugu, Arashiro Rina, Katsuren Keisuke, Tamura Toshiya, Hyakuna Nobuyuki, Ohta Takao
Abstract excerpt
Fructose-1,6-bisphosphatase (FBPase) (EC 3.1.3.11) catalyzes the splitting of fructose-1,6-bisphosphate into fructose 6-phosphate and inorganic phosphate. FBPase deficiency is an autosomal recessive inherited disorder caused by distraction of the fructose-1,6-bisphosphatase 1 gene (FBP1) and features severely impaired gluconeogenesis. We studied a female patient with typical FBPase deficiency symptoms. The FBPase...
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