Phosphofructokinase Deficiency Past, Present and Future

Title: Phosphofructokinase Deficiency Past, Present and Future

Volume: 2 Issue: 2

Author(s): Hiromu Nakajima, Nina Raben, Tomoya Hamaguchi and Tomoyuki Yamasaki

Affiliation:

Keywords: phosphofructokinase deficiency, tarui disease, glycogen storage disease Vll(gsd Vll)

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.

Cite this article as:

Nakajima Hiromu, Raben Nina, Hamaguchi Tomoya and Yamasaki Tomoyuki, Phosphofructokinase Deficiency Past, Present and Future, Current Molecular Medicine 2002; 2 (2) . https://dx.doi.org/10.2174/1566524024605734