title: Phosphofructokinase deficiency; past, present and future.
abstract: Phosphofructokinase deficiency (Tarui disease, glycogen storage disease VII, GSD VII) stands out among all the GSDs. PFK deficiency was the first recognized disorder that directly affects glycolysis. Ever since the discovery of the disease in 1965, a wide range of biochemical, physiological and molecular studies of the disorder have greatly expanded our understanding of the function of normal muscle, general control of glycolysis and glycogen metabolism. The studies of PFK deficiency vastly enriched the field of glycogen storage diseases, as well as the field of metabolic and neuromuscular disorders. This article cites a historical overview of this clinical entity and the progress that has been made in molecular genetic area. We will also present the results of a search in-silico, which allowed us to identify a previously unknown sequence of the human platelet PFK gene (PFK-P). In addition, we will describe phylogenetic analysis of evolution of PFK genes.
authors.affiliation: Department of Clinical Laboratory, Osaka Medical Center for Cancer and Cardiovascular Diseases, Japan. hinakaji@oct.zaq.ne.jp
authors.forename: Hiromu
authors.initials: H
authors.lastname: Nakajima
authors.forename: Nina
authors.initials: N
authors.lastname: Raben
authors.forename: Tomoya
authors.initials: T
authors.lastname: Hamaguchi
authors.forename: Tomoyuki
authors.initials: T
authors.lastname: Yamasaki
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D002648:Child; D002675:Child, Preschool; D004912:Erythrocytes / Q000201:enzymology; D019143:Evolution, Molecular; D005260:Female; D006014:Glycogen Storage Disease Type VII / Q000175:diagnosis* / Q000235:genetics* / Q000378:metabolism; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D008875:Middle Aged; D008957:Models, Genetic; D009132:Muscles / Q000201:enzymology; D009154:Mutation; D025203:Phosphofructokinase-1, Muscle Type / Q000737:chemistry / Q000235:genetics*; D010802:Phylogeny; D020033:Protein Isoforms
chemical_list: D020033:Protein Isoforms; D025203:Phosphofructokinase-1, Muscle Type